A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122204



Internal ID6642394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120848231..120853610hg38UCSC Ensembl
Innerchr3:120848231..120853610hg38UCSC Ensembl
Outerchr3:120848181..120853646hg38UCSC Ensembl
chr3:120567078..120572457hg19UCSC Ensembl
Innerchr3:120567078..120572457hg19UCSC Ensembl
Outerchr3:120567028..120572493hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg385380
hg195380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597581
Supporting Variants
SamplesNA20799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11122204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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