A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672144



Internal ID9938249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47591695..47591785hg38UCSC Ensembl
Outerchr1:47591656..47591842hg38UCSC Ensembl
Innerchr1:48057367..48057457hg19UCSC Ensembl
Outerchr1:48057328..48057514hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6220079, essv6503915, essv6469586, essv5664526, essv6084759, essv6207544, essv5758663, essv6409890, essv5616991, essv5542693, essv5621756, essv5872390, essv5583042, essv6520426, essv6032347, essv5654938, essv5868188, essv5598967, essv5440762, essv6306567, essv5763028, essv6404630, essv6582449, essv5421826, essv5887605, essv6394697, essv6351864, essv6007847, essv6156252
SamplesNA19704, NA19107, NA19446, NA19373, HG01350, NA18519, NA19448, NA19189, NA19921, NA19451, NA19462, NA19391, NA18516, NA19776, NA18856, NA19395, NA19401, NA19834, NA19256, NA19747, NA19473, NA19360, NA20348, NA19438, NA19472, NA19060, NA18873, NA18488, HG01125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672144
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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