A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597454



Internal ID6637724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114258097..114296669hg38UCSC Ensembl
Innerchr3:114258247..114296519hg38UCSC Ensembl
Outerchr3:114257947..114296819hg38UCSC Ensembl
chr3:113976944..114015516hg19UCSC Ensembl
Innerchr3:113977094..114015366hg19UCSC Ensembl
Outerchr3:113976794..114015666hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3838573
hg1938573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv921e214
Supporting Variantsessv11107403, essv11107406, essv11107404, essv11107407, essv11107402, essv11107405, essv11107401, essv11107400
SamplesNA21106, NA21118, HG04180, NA21086, HG03809, HG03600, HG03642, HG00628
Known GenesTIGIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597454
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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