A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751685



Internal ID12638551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45927606..46711951hg38UCSC Ensembl
Innerchr17:44004972..44789317hg19UCSC Ensembl
Innerchr17:41360800..42144500hg18UCSC Ensembl
Innerchr17:41360800..42144500hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38784346
hg19784346
hg18783701
hg17783701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6984485, essv6984486, essv6987599
SamplesBEC_711
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, MAPT, NSF, NSFP1, STH
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)esv2751685
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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