A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987015



Internal ID12634640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21464595..21593341hg38UCSC Ensembl
Innerchr17:21367907..21496607hg19UCSC Ensembl
Innerchr17:21308500..21437200hg18UCSC Ensembl
Innerchr17:21308500..21437200hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38128747
hg19128701
hg18128701
hg17128701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34477
Supporting Variants
SamplesNA18960
Known GenesC17orf51
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987015
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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