A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11112300



Internal ID1404425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116619882..116627320hg38UCSC Ensembl
Innerchr3:116619892..116627310hg38UCSC Ensembl
Outerchr3:116619872..116627330hg38UCSC Ensembl
chr3:116338729..116346167hg19UCSC Ensembl
Innerchr3:116338739..116346157hg19UCSC Ensembl
Outerchr3:116338719..116346177hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg387439
hg197439
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597496
Supporting Variants
SamplesHG01272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11112300
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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