A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662524



Internal ID9928629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37416831..37422622hg38UCSC Ensembl
Outerchr17:37416460..37422992hg38UCSC Ensembl
Innerchr17:35776916..35782722hg19UCSC Ensembl
Outerchr17:35776545..35783092hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386533
hg196548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv549e199
Supporting Variantsessv5976321, essv6447055, essv6120918, essv6530890, essv6023459, essv5929038, essv6240593, essv6045599, essv5710305, essv6350767, essv6358713, essv6420017, essv5786102, essv5610215, essv5424980, essv5803590, essv6358815, essv6533275, essv6509304, essv5933830, essv6327470, essv5558255, essv5569794, essv5476968, essv5933139, essv6547111, essv5522373, essv6403100, essv6594784, essv6584834, essv5524777, essv6290302, essv5701002, essv6300872
SamplesHG00626, HG00403, HG00650, HG00608, HG00699, HG00654, HG00693, HG00663, HG00589, HG00689, HG00610, HG00537, HG00590, HG00530, HG00464, HG00543, HG00596, HG00475, HG00556, HG00584, HG00583, HG00500, HG00619, HG00708, HG00651, HG00690, HG00404, HG00479, HG00525, HG00580, HG00614, HG00656, HG00628, HG00581
Known GenesTADA2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662524
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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