A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665358



Internal ID9931463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31641542..31642828hg38UCSC Ensembl
chr22:32037528..32038814hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5849119, essv5737361, essv6536791, essv5402498, essv5876410, essv5668779, essv6273034, essv6101293, essv5404980, essv5902655, essv6029536, essv5710210, essv5584278, essv6519276, essv6429543, essv5700606, essv6552315, essv5416820, essv5462233, essv5788670, essv5410543, essv6048017, essv6098066, essv5421924, essv6384082, essv6117567, essv5539043, essv5780870, essv6047866, essv5984618, essv6458267, essv5629549, essv6169276, essv6467906, essv6566137, essv6315418, essv6390146, essv6002717, essv6377158, essv6076483, essv6266855, essv5965129, essv6064037
SamplesNA19350, NA19359, NA19393, NA20346, NA19190, NA18510, NA19381, NA19382, NA18489, NA19448, HG01170, NA18868, NA19372, NA19371, NA19385, NA19471, NA19317, NA19451, NA19462, NA19327, NA19455, NA19236, NA18910, NA20299, NA19449, NA18853, NA19338, NA19452, NA19625, NA18517, NA19435, NA19428, NA19324, NA19360, NA19398, NA19328, NA19248, NA19438, NA19472, NA19093, NA19900, NA19346, HG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665358
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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