A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663708



Internal ID9929813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49902295..49902541hg38UCSC Ensembl
Outerchr22:49902252..49902611hg38UCSC Ensembl
Innerchr22:50295943..50296189hg19UCSC Ensembl
Outerchr22:50295900..50296259hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5738335, essv5434832, essv6348806, essv6238886, essv5575516, essv6448230, essv6555708, essv6430208, essv6184960, essv6202737, essv6497815, essv6551899, essv5757914, essv5894309, essv6562833, essv6565979, essv5535649, essv6112076, essv5750888, essv6162544, essv6359818, essv5586714, essv5681685, essv5715327, essv6370639, essv5824103, essv6451077, essv5646145, essv5541513, essv6480881, essv5722055, essv6039736, essv6274453, essv6552599, essv6386250, essv5810247, essv6345946, essv6415648, essv6450332, essv6037248, essv5840080, essv6597058, essv6004366, essv6057362, essv6018423, essv5533490, essv5867174, essv6294143, essv6292124
SamplesNA19703, HG00361, HG01359, NA19399, NA19704, NA19359, NA18625, NA20806, NA19373, NA19198, NA18619, NA19457, NA19088, NA19384, NA19079, NA19404, HG01067, NA19383, NA19719, NA19385, NA19317, NA19087, HG01133, NA19445, NA20757, HG00149, NA19403, HG01095, NA19455, NA12718, NA20344, NA19084, HG00373, NA18963, NA19395, HG01107, NA19401, NA19375, NA19729, NA19440, NA19072, HG00357, NA19010, NA18631, NA18987, HG00267, HG00186, NA19755, NA19312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663708
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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