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dbVar

Database of genomic structural variation

esv3851060

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 148 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):117,645,848-117,645,848

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3851060	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
esv3851060	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	117,285,902	117,285,902

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20846153	alu insertion	HG02759	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,148
essv20846154	alu insertion	HG02836	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,862
essv20846155	alu insertion	HG02884	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,913
essv20846156	alu insertion	HG03072	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,943
essv20846157	alu insertion	HG03514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,779
essv20846158	alu insertion	HG03571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,951
essv20846159	alu insertion	HG03577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,990
essv20846160	alu insertion	NA18489	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,852
essv20846161	alu insertion	NA19789	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,596

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20846153	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846154	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846155	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846156	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846157	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846158	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846159	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846160	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846161	Remapped	Perfect	NC_000007.14:g.117 645848_117645849in s278	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,645,848	117,645,848
essv20846153	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846154	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846155	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846156	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846157	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846158	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846159	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846160	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902
essv20846161	Submitted genomic		NC_000007.13:g.117 285902_117285903in s278	GRCh37 (hg19)		NC_000007.13	Chr7	117,285,902	117,285,902

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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