A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670657



Internal ID9936762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31213320..31214174hg38UCSC Ensembl
Outerchr14:31213281..31214231hg38UCSC Ensembl
Innerchr14:31682526..31683380hg19UCSC Ensembl
Outerchr14:31682487..31683437hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6497775, essv5504049, essv6176525, essv5987840, essv5792158, essv5837721, essv6350086, essv6417239, essv6217927, essv6127314, essv5971899, essv5832746, essv6585114, essv5512632, essv5932967, essv6030817, essv5525248, essv5740688, essv5748992, essv6301910
SamplesNA11830, HG00449, NA12413, NA18944, NA18960, NA12748, NA11831, NA18948, NA18566, NA12827, NA18555, NA12546, HG00254, NA18543, NA12775, NA12046, NA12763, NA18609, NA18612, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670657
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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