A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787925



Internal ID19172111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19585538..19684290hg38UCSC Ensembl
Innerchr17:19488851..19587603hg19UCSC Ensembl
Innerchr17:19429443..19528195hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3898753
hg1998753
hg1898753
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892981
Supporting Variants
Samples
Known GenesALDH3A2, SLC47A2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=49
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787925
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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