A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11117976



Internal ID3213301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119936320..119938012hg38UCSC Ensembl
Innerchr3:119936321..119938012hg38UCSC Ensembl
Outerchr3:119936320..119938013hg38UCSC Ensembl
chr3:119655167..119656859hg19UCSC Ensembl
Innerchr3:119655168..119656859hg19UCSC Ensembl
Outerchr3:119655167..119656860hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381693
hg191693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597569
Supporting Variants
SamplesHG02817
Known GenesGSK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11117976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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