A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668352



Internal ID9934457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:111805586..111805794hg38UCSC Ensembl
Outerchr3:111805429..111805947hg38UCSC Ensembl
Innerchr3:111524433..111524641hg19UCSC Ensembl
Outerchr3:111524276..111524794hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5703261, essv6523699, essv6456663, essv5809824, essv6242018, essv5790922, essv6298813, essv6190384, essv5436155, essv6428642, essv6513425, essv6237126, essv6021961, essv5954397, essv5828705, essv5603667, essv5846794, essv6247629, essv5593622, essv6307951, essv5620002, essv6270442, essv6206942, essv6161422, essv6020520, essv6279089, essv5810392, essv5407144, essv6311208, essv6133530, essv6217879, essv5544183, essv6316460, essv5401649, essv5870447, essv6029743, essv6021910, essv6227621, essv5712549
SamplesHG00626, HG00542, HG00442, NA19399, NA18999, NA18596, HG00566, NA18602, HG01350, HG00702, NA18635, HG01492, HG00610, HG00537, NA19079, HG00590, HG00683, HG00422, HG01440, HG00530, HG00464, HG00443, HG00653, HG00657, HG00583, NA18637, NA18534, HG00684, HG00525, HG00580, NA19311, NA19360, HG00418, NA18610, HG00707, HG00513, HG00656, HG00698, HG00437
Known GenesPHLDB2, PLCXD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668352
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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