A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667759



Internal ID9933864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23972827..23992629hg38UCSC Ensembl
Outerchr22:23972456..23992998hg38UCSC Ensembl
Innerchr22:24315016..24334822hg19UCSC Ensembl
Outerchr22:24314645..24335192hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3820543
hg1920548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826e199
Supporting Variantsessv6415710, essv5953565, essv6426586, essv6173983, essv5667806, essv6236000, essv6515014, essv6511765, essv6031048, essv6350894, essv5920890, essv6552480, essv6527229, essv6053157, essv5939362, essv6564570, essv5695179, essv5880725, essv6234438, essv6219960, essv6044081, essv5627903
SamplesHG01441, HG01359, HG01389, HG01456, HG01461, HG01140, HG01350, HG01351, HG01488, HG01492, HG01136, HG01384, HG01498, HG01148, HG01375, HG01491, HG01254, HG01251, HG01378, HG01125, HG01112, HG01437
Known GenesDDT, DDTL, GSTT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667759
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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