NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Submitted SNP(ss) Details: ss217390801           
Submitter
Handle1000GENOMES
Submitter SNP IDpilot_3_CHB_1_chr1_1105468
RefSNP(rs#)rs116712279
Submitted Batch IDpilot_3_CHB_mar_2010
Submitted DateApr 09, 2010
Publication Cited[1] SNP discovery in 1000 Genomes Project Pilot 3: targeted enrichment and exon sequencing for 1000 human genes.
First entry to dbSNPApr 9 2010 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodEXON_CAPTURE_SEQUENCING
Ascertainment Samplesize218
PopulationN.D.
Allele
Observed AlleleG/A
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusNot Validated
HWE Goodness of Fitnot applicable
Variation
Frequency Submissionpopulation count: 1
Genotype SummaryN.D.
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
depth.cov:942

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss217390801|allelePos=201|len=401|taxid=9606|alleles='G/A'|mol=Genomic
 CGTTCACAGG CCCGGCCCAC GAGAGGCCAA TGGGGAGCAG CCAGGAGGAG GGACTCCGGT
 GTCAGCCAAG CCAGCCAGAC CACGACGCAG ATGGACACTG TGGGCCGGAC CTGGAGGGGG
 CAGAAAGAGC CTCTGCCACA CCCGGACCCC CTGGGCTCCT GAACAGCCAC CGGCCTGCAG
 ACTCGGATGA CACTAACGCC
 R
 CCGGGCCCTC AGCTGCCCTC CTGGAGGGGC TCCTGCTGGG GGGTGGGAAG CCATCGCCCC
 ACAGCACCCG GCCGGGGCCC TTCTTCTACA TTGGAGGCAG CAACGGGGCC ACAATGTGAG
 TAGCGGCCCT GGGCGCCCGT GGTCCCACTG AATACCCACC GCCTGCTCCC GGGGCCCAGC
 CCGGCCTCCG CTGGCCGCCC

  Submitted Frequency for ss217390801 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
pilot_3_CHB_exon_capture_panel
EAST ASIA
138G=0.99275398
A=0.00724600
pilot_3_CHB_mar_20101000GENOMES


  dbSNP summary of Genotypes for ss217390801 back to top
No sufficient data to compute Hardy-weinberg probability for ss217390801.


  Submitted individual genotype for ss217390801 back to top
There is no individual genotype data for ss217390801.