A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10263132



Internal ID5890518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:199155693..199182467hg38UCSC Ensembl
Innerchr1:199155693..199182467hg38UCSC Ensembl
Outerchr1:199155193..199182967hg38UCSC Ensembl
chr1:199124821..199151595hg19UCSC Ensembl
Innerchr1:199124821..199151595hg19UCSC Ensembl
Outerchr1:199124321..199152095hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3826775
hg1926775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588541
Supporting Variants
SamplesNA19314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10263132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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