A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10770223



Internal ID1543091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176992629..177014647hg38UCSC Ensembl
Innerchr2:176992689..177014587hg38UCSC Ensembl
Outerchr2:176992569..177014707hg38UCSC Ensembl
chr2:177857357..177879375hg19UCSC Ensembl
Innerchr2:177857417..177879315hg19UCSC Ensembl
Outerchr2:177857297..177879435hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3822019
hg1922019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593457
Supporting Variants
SamplesHG01414
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10770223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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