A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665397



Internal ID9931502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29145710..29145930hg38UCSC Ensembl
chr12:29298643..29298863hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6280086, essv5579529, essv6350227, essv6528429, essv5516485, essv6191300, essv5475998, essv5901428, essv5836528, essv5567386, essv6373043, essv5989895, essv5936549, essv5504892, essv5878793, essv5849682
SamplesNA19819, NA19920, NA19374, NA19379, HG00736, NA19235, NA19385, NA18908, NA19403, NA19114, NA18856, NA19257, NA19444, NA19428, NA19818, NA19376
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665397
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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