A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893036



Internal ID18837170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67695266..67810037hg38UCSC Ensembl
Outerchr17:67695266..67810037hg38UCSC Ensembl
Innerchr17:65691382..65806153hg19UCSC Ensembl
Outerchr17:65691382..65806153hg19UCSC Ensembl
Innerchr17:63121844..63236615hg18UCSC Ensembl
Outerchr17:63121844..63236615hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38114772
hg19114772
hg18114772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789052, essv25788507
Samples
Known GenesNOL11, PITPNC1, SNORA38B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893036
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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