A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788507



Internal ID18826006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67695266..67810037hg38UCSC Ensembl
Innerchr17:65691382..65806153hg19UCSC Ensembl
Innerchr17:63121844..63236615hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38114772
hg19114772
hg18114772
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893036
Supporting Variants
Samples
Known GenesNOL11, PITPNC1, SNORA38B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788507
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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