A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597453



Internal ID6637723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114256209..114297720hg38UCSC Ensembl
chr3:113975056..114016567hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3841512
hg1941512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv921e214
Supporting Variantsessv11107396, essv11107395, essv11107394, essv11107397, essv11107398, essv11107399
SamplesNA21106, HG04180, NA21086, HG03809, HG03600, HG03642
Known GenesTIGIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597453
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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