A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662981



Internal ID9929086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45031807..45031989hg38UCSC Ensembl
chr22:45427688..45427870hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5522105, essv6330982, essv6125778, essv5646606, essv5876449, essv6408449, essv5832899, essv6184064, essv5630490, essv5436296, essv5514473, essv6486654, essv6096624, essv6063990, essv5827837, essv6012993, essv6443424, essv6498867, essv5911897, essv6008100, essv5525351, essv5874986, essv5403506, essv6133504, essv5726499, essv5971569
SamplesNA19394, NA19359, NA19443, HG01051, NA19197, NA19457, NA19404, NA20278, NA19445, HG01136, NA19403, NA18933, NA19449, NA19453, NA19318, NA19395, NA19331, NA19439, NA20281, NA19398, NA19328, NA20334, NA19116, NA19213, NA19430, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662981
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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