A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35056



Internal ID12991092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:789280..950392hg38UCSC Ensembl
Innerchr17:692520..853632hg19UCSC Ensembl
Innerchr17:639270..800382hg18UCSC Ensembl
Innerchr17:639270..800382hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38161113
hg19161113
hg18161113
hg17161113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986560, essv6978207
SamplesNA18978
Known GenesNXN, RNMTL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35056
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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