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esv2758041

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:172,035

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 649 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):30,676,916-30,848,542Question Mark
Overlapping variant regions from other studies: 57 SVs from 12 studies. See in: genome view    
Remapped(Score: Good):2,020,993-2,192,621Question Mark
Overlapping variant regions from other studies: 18 SVs from 3 studies. See in: genome view    
Remapped(Score: Good):1,932,030-2,103,646Question Mark
Overlapping variant regions from other studies: 51 SVs from 14 studies. See in: genome view    
Remapped(Score: Pass):1,977,699-2,139,193Question Mark
Overlapping variant regions from other studies: 170 SVs from 16 studies. See in: genome view    
Remapped(Score: Good):1,987,169-2,158,787Question Mark
Overlapping variant regions from other studies: 69 SVs from 13 studies. See in: genome view    
Remapped(Score: Good):1,932,770-2,104,804Question Mark
Overlapping variant regions from other studies: 18 SVs from 3 studies. See in: genome view    
Remapped(Score: Good):2,156,660-2,328,285Question Mark
Overlapping variant regions from other studies: 649 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):30,644,693-30,816,319Question Mark
Overlapping variant regions from other studies: 18 SVs from 3 studies. See in: genome view    
Remapped(Score: Good):2,156,766-2,328,391Question Mark
Overlapping variant regions from other studies: 69 SVs from 13 studies. See in: genome view    
Remapped(Score: Good):1,938,355-2,110,389Question Mark
Overlapping variant regions from other studies: 57 SVs from 12 studies. See in: genome view    
Remapped(Score: Good):2,026,578-2,198,206Question Mark
Overlapping variant regions from other studies: 18 SVs from 3 studies. See in: genome view    
Remapped(Score: Good):1,937,626-2,109,242Question Mark
Overlapping variant regions from other studies: 51 SVs from 14 studies. See in: genome view    
Remapped(Score: Pass):1,976,997-2,138,491Question Mark
Overlapping variant regions from other studies: 170 SVs from 16 studies. See in: genome view    
Remapped(Score: Good):1,992,789-2,164,407Question Mark
Overlapping variant regions from other studies: 19 SVs from 3 studies. See in: genome view    
Submitted genomic30,752,672-30,924,298Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2758041RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr630,676,91630,848,542
esv2758041RemappedGoodGRCh38.p12ALT_REF_LOCI_5Second PassNT_167247.2Chr6|NT_16
7247.2		2,020,9932,192,621
esv2758041RemappedGoodGRCh38.p12ALT_REF_LOCI_6Second PassNT_167248.2Chr6|NT_16
7248.2		1,932,0302,103,646
esv2758041RemappedPassGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2		1,977,6992,139,193
esv2758041RemappedGoodGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2		1,987,1692,158,787
esv2758041RemappedGoodGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2		1,932,7702,104,804
esv2758041RemappedGoodGRCh38.p12ALT_REF_LOCI_2Second PassNT_113891.3Chr6|NT_11
3891.3		2,156,6602,328,285
esv2758041RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr630,644,69330,816,319
esv2758041RemappedGoodGRCh37.p13ALT_REF_LOCI_2Second PassNT_113891.2Chr6|NT_11
3891.2		2,156,7662,328,391
esv2758041RemappedGoodGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1		1,938,3552,110,389
esv2758041RemappedGoodGRCh37.p13ALT_REF_LOCI_5Second PassNT_167247.1Chr6|NT_16
7247.1		2,026,5782,198,206
esv2758041RemappedGoodGRCh37.p13ALT_REF_LOCI_6Second PassNT_167248.1Chr6|NT_16
7248.1		1,937,6262,109,242
esv2758041RemappedPassGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1		1,976,9972,138,491
esv2758041RemappedGoodGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1		1,992,7892,164,407
esv2758041Submitted genomicNCBI35 (hg17)Primary AssemblyNC_000006.9Chr630,752,67230,924,298

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv13511copy number lossNA19160BAC aCGHProbe signal intensity99
essv15379copy number lossNA19203BAC aCGHProbe signal intensity83

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv13511RemappedGoodNT_167248.2:g.(?_1
932030)_(2103646_?
)del		GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2		1,932,0302,103,646
essv15379RemappedGoodNT_167248.2:g.(?_1
932030)_(2103646_?
)del		GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2		1,932,0302,103,646
essv13511RemappedPassNT_167249.2:g.(?_1
977699)_(2139193_?
)del		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		1,977,6992,139,193
essv15379RemappedPassNT_167249.2:g.(?_1
977699)_(2139193_?
)del		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		1,977,6992,139,193
essv13511RemappedGoodNT_167246.2:g.(?_1
987169)_(2158787_?
)del		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		1,987,1692,158,787
essv15379RemappedGoodNT_167246.2:g.(?_1
987169)_(2158787_?
)del		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		1,987,1692,158,787
essv13511RemappedGoodNT_167247.2:g.(?_2
020993)_(2192621_?
)del		GRCh38.p12Second PassNT_167247.2Chr6|NT_16
7247.2		2,020,9932,192,621
essv15379RemappedGoodNT_167247.2:g.(?_2
020993)_(2192621_?
)del		GRCh38.p12Second PassNT_167247.2Chr6|NT_16
7247.2		2,020,9932,192,621
essv13511RemappedGoodNT_167245.2:g.(?_1
932770)_(2104804_?
)del		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		1,932,7702,104,804
essv15379RemappedGoodNT_167245.2:g.(?_1
932770)_(2104804_?
)del		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		1,932,7702,104,804
essv13511RemappedGoodNT_113891.3:g.(?_2
156660)_(2328285_?
)del		GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3		2,156,6602,328,285
essv15379RemappedGoodNT_113891.3:g.(?_2
156660)_(2328285_?
)del		GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3		2,156,6602,328,285
essv13511RemappedPerfectNC_000006.12:g.(?_
30676916)_(3084854
2_?)del		GRCh38.p12First PassNC_000006.12Chr630,676,91630,848,542
essv15379RemappedPerfectNC_000006.12:g.(?_
30676916)_(3084854
2_?)del		GRCh38.p12First PassNC_000006.12Chr630,676,91630,848,542
essv13511RemappedGoodNT_167248.1:g.(?_1
937626)_(2109242_?
)delNT_167248.1:g.
(?_1937626)_(21092
42_?)del		GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1		1,937,6262,109,242
essv15379RemappedGoodNT_167248.1:g.(?_1
937626)_(2109242_?
)delNT_167248.1:g.
(?_1937626)_(21092
42_?)del		GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1		1,937,6262,109,242
essv13511RemappedGoodNT_167245.1:g.(?_1
938355)_(2110389_?
)delNT_167245.1:g.
(?_1938355)_(21103
89_?)del		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		1,938,3552,110,389
essv15379RemappedGoodNT_167245.1:g.(?_1
938355)_(2110389_?
)delNT_167245.1:g.
(?_1938355)_(21103
89_?)del		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		1,938,3552,110,389
essv13511RemappedPassNT_167249.1:g.(?_1
976997)_(2138491_?
)del		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		1,976,9972,138,491
essv15379RemappedPassNT_167249.1:g.(?_1
976997)_(2138491_?
)del		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		1,976,9972,138,491
essv13511RemappedGoodNT_167246.1:g.(?_1
992789)_(2164407_?
)delNT_167246.1:g.
(?_1992789)_(21644
07_?)del		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		1,992,7892,164,407
essv15379RemappedGoodNT_167246.1:g.(?_1
992789)_(2164407_?
)delNT_167246.1:g.
(?_1992789)_(21644
07_?)del		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		1,992,7892,164,407
essv13511RemappedGoodNT_167247.1:g.(?_2
026578)_(2198206_?
)delNT_167247.1:g.
(?_2026578)_(21982
06_?)del		GRCh37.p13Second PassNT_167247.1Chr6|NT_16
7247.1		2,026,5782,198,206
essv15379RemappedGoodNT_167247.1:g.(?_2
026578)_(2198206_?
)delNT_167247.1:g.
(?_2026578)_(21982
06_?)del		GRCh37.p13Second PassNT_167247.1Chr6|NT_16
7247.1		2,026,5782,198,206
essv13511RemappedGoodNT_113891.2:g.(?_2
156766)_(2328391_?
)del		GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2		2,156,7662,328,391
essv15379RemappedGoodNT_113891.2:g.(?_2
156766)_(2328391_?
)del		GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2		2,156,7662,328,391
essv13511RemappedPerfectNC_000006.11:g.(?_
30644693)_(3081631
9_?)del		GRCh37.p13First PassNC_000006.11Chr630,644,69330,816,319
essv15379RemappedPerfectNC_000006.11:g.(?_
30644693)_(3081631
9_?)del		GRCh37.p13First PassNC_000006.11Chr630,644,69330,816,319
essv13511Submitted genomicNC_000006.9:g.(?_3
0752672)_(30924298
_?)del		NCBI35 (hg17)NC_000006.9Chr630,752,67230,924,298
essv15379Submitted genomicNC_000006.9:g.(?_3
0752672)_(30924298
_?)del		NCBI35 (hg17)NC_000006.9Chr630,752,67230,924,298

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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