A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787889



Internal ID19175268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66756824..66801072hg38UCSC Ensembl
Innerchr1:67222507..67266755hg19UCSC Ensembl
Innerchr1:66995095..67039343hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3844249
hg1944249
hg1844249
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893623
Supporting Variants
Samples
Known GenesINSL5, TCTEX1D1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787889
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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