A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676634



Internal ID9942739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:169659228..169662934hg38UCSC Ensembl
Outerchr3:169658857..169663304hg38UCSC Ensembl
Innerchr3:169377016..169380722hg19UCSC Ensembl
Outerchr3:169376645..169381092hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6285795, essv6128433, essv5451130, essv6302174, essv5660516, essv5416205, essv6186286, essv6534378, essv5717761, essv5667895, essv5467028, essv5553751, essv6411812, essv6547824, essv6029703, essv5949140, essv6563089, essv5434481, essv6467870, essv5709246, essv6330219, essv5838102, essv6122264, essv5577111, essv5444897, essv6446273, essv6550860, essv6102503, essv6233034, essv6312187, essv6332624, essv5785099, essv5398021, essv6281897, essv5853737, essv6091837, essv6362390, essv6094044, essv5875895, essv6578077, essv5548077, essv5555683, essv5414790, essv6421183, essv6482035, essv5728130, essv6137248, essv5994144
SamplesHG00189, HG00315, HG00367, HG00181, HG00271, HG00272, HG00346, HG00369, HG00270, HG00185, HG00281, HG00277, HG00335, HG00309, HG00182, HG00338, HG00326, HG00323, HG00313, HG00268, HG00266, HG00176, HG00282, HG00328, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00353, HG00375, HG00357, HG00319, HG00269, HG00329, HG00342, HG00310, HG00186, HG00280, HG00343, HG00274, HG00171, HG00345
Known GenesMECOM
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676634
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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