A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664962



Internal ID9931067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86215042..86217340hg38UCSC Ensembl
chr1:86680725..86683023hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg382299
hg192299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6294365, essv5696990, essv5946093, essv6261374, essv5715649, essv5710102, essv6567380, essv5807953, essv6320119, essv5581501, essv6466456, essv6315081, essv6331258, essv5770723, essv5673140, essv5395892, essv6323357, essv6290941, essv5837127, essv6082960, essv5771693, essv5502018, essv6456466, essv5453060, essv6458601, essv5611779, essv5941889, essv5403589, essv6226635, essv5429102, essv6529320, essv5987483, essv5574431, essv5573984, essv6302338, essv5557895, essv5678374, essv5653347, essv5586016, essv5500900, essv6445748, essv5406759, essv5804191, essv5785730, essv6434215, essv5447184, essv5457068, essv5621232, essv6594018, essv5993364, essv6541649
SamplesNA18502, HG00114, NA19703, NA19397, HG00361, NA18861, NA19819, NA19190, NA20356, NA18510, NA20814, HG00641, NA20756, HG01492, HG01365, NA20513, HG01134, HG01067, NA19238, HG01133, NA19985, HG00419, NA19908, NA19247, NA19707, HG00428, NA19462, HG01095, NA20760, NA19236, NA19982, NA18948, HG00479, NA18553, NA12827, HG01334, NA19257, NA19390, NA19147, HG00580, NA19444, NA20792, NA19398, HG00513, NA19468, NA19093, HG01377, NA19430, NA12154, NA19346, HG01437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664962
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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