A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11108813



Internal ID6312667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114938081..114949729hg38UCSC Ensembl
Innerchr3:114938082..114949729hg38UCSC Ensembl
Outerchr3:114938081..114949730hg38UCSC Ensembl
chr3:114656928..114668576hg19UCSC Ensembl
Innerchr3:114656929..114668576hg19UCSC Ensembl
Outerchr3:114656928..114668577hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3811649
hg1911649
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597466
Supporting Variants
SamplesNA19914
Known GenesZBTB20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11108813
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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