A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660107



Internal ID9926212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23972427..23991428hg38UCSC Ensembl
Outerchr22:23972056..23991798hg38UCSC Ensembl
Innerchr22:24314616..24333622hg19UCSC Ensembl
Outerchr22:24314245..24333992hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3819743
hg1919748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826e199
Supporting Variantsessv5756828, essv6043500, essv6095073, essv6029264, essv5897840, essv5826720, essv5801866, essv5505420, essv5952829, essv5433468, essv6555538, essv6441795, essv6532500, essv5807238, essv5893850, essv6054425, essv6288322, essv6536704, essv5574385, essv5730925, essv5648219, essv5464821, essv6291364, essv6593689, essv5441211, essv5594439, essv6296499, essv6032875, essv5417734, essv6595506, essv6226256, essv6149990, essv5477601, essv5568773, essv5744632, essv5653977, essv5781237, essv6406078, essv6380489, essv5508701, essv5934059, essv5666960, essv5651645, essv6334113, essv5544547, essv5404512, essv6546802, essv5716678
SamplesNA11995, NA12273, NA12414, NA12843, NA11933, NA11931, NA12045, NA12340, NA12399, NA12155, NA12341, NA07346, NA12348, NA11992, NA07048, NA11918, NA07347, NA12287, NA12761, NA12282, NA12275, NA12156, NA06984, NA12828, NA12748, NA11831, NA12777, NA12489, NA12342, NA12003, NA12718, NA11919, NA11893, NA11894, NA12249, NA12144, NA12716, NA11881, NA12272, NA12046, NA12763, NA12347, NA06986, NA12830, NA11843, NA12006, NA12154, NA12776
Known GenesDDT, DDTL, GSTT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660107
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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