A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997498



Internal ID6733440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62157156..62158491hg38UCSC Ensembl
Innerchr1:62622828..62624163hg19UCSC Ensembl
Innerchr1:62395416..62396751hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381336
hg191336
hg181336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587084
SamplesHuRef
Known GenesINADL
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997498
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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