A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251222



Internal ID5301866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181923130..181925657hg38UCSC Ensembl
Innerchr3:181923165..181925623hg38UCSC Ensembl
Outerchr3:181923096..181925692hg38UCSC Ensembl
chr3:181640918..181643445hg19UCSC Ensembl
Innerchr3:181640953..181643411hg19UCSC Ensembl
Outerchr3:181640884..181643480hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg382528
hg192528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598898
Supporting Variants
SamplesNA18853
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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