A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674386



Internal ID9940491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5667685..5667836hg38UCSC Ensembl
Outerchr1:5667633..5667899hg38UCSC Ensembl
Innerchr1:5727745..5727896hg19UCSC Ensembl
Outerchr1:5727693..5727959hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5549176, essv6190723, essv6020750, essv5613090, essv5790903, essv5768514, essv5738482, essv6384347, essv5665252, essv5504297, essv6122182, essv6310515, essv6212200, essv6294299, essv6148778, essv5972280, essv5499783, essv5411958, essv6060968, essv6108169, essv6129857, essv5489756, essv5692394, essv6356112, essv5927529, essv6565812, essv5850151, essv6326712, essv5574275, essv5418071, essv5667480, essv5832322, essv5786001, essv5932568, essv5898834, essv6384104, essv5571822, essv6301555, essv6566648, essv5935278, essv6213259, essv6221620, essv6509161
SamplesNA19703, NA18592, NA18917, NA19359, NA19377, NA19374, NA18519, HG00251, NA19382, HG00702, HG00689, HG00448, NA20317, NA18960, NA19384, NA19371, HG00534, NA19385, HG00422, HG00705, HG00427, NA18557, HG00428, HG00701, HG00657, NA18637, HG00500, HG00708, NA20299, HG00690, HG00684, NA19225, HG00463, NA18945, NA19380, HG01108, HG00418, NA18636, HG00698, NA20322, NA19463, NA18549, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674386
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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