A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986560



Internal ID12981596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:796780..950392hg38UCSC Ensembl
Innerchr17:700020..853632hg19UCSC Ensembl
Innerchr17:646770..800382hg18UCSC Ensembl
Innerchr17:646770..800382hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38153613
hg19153613
hg18153613
hg17153613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35056
Supporting Variants
SamplesNA18978
Known GenesNXN
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986560
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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