A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669276



Internal ID9935381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100745159..100749565hg38UCSC Ensembl
Outerchr10:100744788..100749935hg38UCSC Ensembl
Innerchr10:102504916..102509322hg19UCSC Ensembl
Outerchr10:102504545..102509692hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6108518, essv6035584, essv6573029, essv6122612, essv5933774, essv6216219, essv5678799, essv6195278, essv5618869, essv6446517, essv6539747, essv6108066, essv6308510, essv6063150, essv5966141, essv5949191, essv6479416, essv6005541, essv5643591, essv6216856, essv6022076, essv6576913, essv5521622, essv6276021, essv6550843, essv5575284, essv6479548, essv5506984, essv5912343, essv5654567, essv5753524, essv5705320, essv6497533, essv5985060, essv6179945, essv6532077, essv6596502, essv5828469, essv5971987, essv6309989, essv6243055, essv5815769, essv6572525, essv6345666, essv5789730, essv5973664, essv5476719, essv5448232, essv5435383, essv5954967, essv6246559, essv6164833, essv6368267, essv6580865
SamplesHG00403, HG00650, HG00542, HG00592, HG00536, HG00608, HG00524, HG00449, HG00663, HG00501, HG00689, HG00448, HG00634, HG00537, HG00590, HG00683, HG00422, HG00427, HG00530, HG00419, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00475, HG00584, HG00533, HG00500, HG00619, HG00708, HG00690, HG00404, HG00531, HG00525, HG00704, HG00463, HG00611, HG00476, HG00607, HG00418, HG00707, HG00614, HG00513, HG00578, HG00421, HG00656, HG00698, HG00595, HG00628, HG00437, HG00581
Known GenesPAX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669276
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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