A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980140



Internal ID12634638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21464592..21593333hg38UCSC Ensembl
Innerchr17:21367904..21496599hg19UCSC Ensembl
Innerchr17:21308497..21437192hg18UCSC Ensembl
Innerchr17:21308497..21437192hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38128742
hg19128696
hg18128696
hg17128696
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)essv6980140
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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