A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677961



Internal ID9944066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75407735..75408575hg38UCSC Ensembl
chr14:75874438..75875278hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5678417, essv6199170, essv6431743, essv5430267, essv5454588, essv6334812, essv6360261, essv6467867, essv5780647, essv5977676, essv6184229, essv6051693, essv5930167, essv6441848, essv6388504, essv6253390, essv5870596, essv5637103, essv6440087, essv5473037, essv6051555, essv6578291, essv5804860, essv5684222, essv5478892, essv5831915, essv5789083, essv6106853, essv5636970, essv6121713, essv5510852, essv5886024, essv5426021, essv6483470, essv5844517, essv6160317, essv5998743, essv6000508, essv6033526, essv6306674, essv5714751, essv6078368, essv6106169, essv6474056, essv6278786, essv6428825, essv5956868
SamplesHG01060, HG00542, HG00442, HG01356, NA19664, HG00699, NA18602, HG00663, NA19660, HG00702, HG00689, NA18635, NA19088, NA19681, NA19079, HG00427, NA18990, HG00637, NA18985, NA18539, HG00657, NA19081, HG01149, HG00692, NA19064, NA18548, NA18626, HG00690, NA18553, NA19059, NA18963, NA18543, HG00580, NA19010, NA18615, NA19078, HG00707, HG00513, NA18987, HG00656, NA19726, HG00595, HG00628, NA18612, NA19074, HG00553, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677961
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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