A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751684



Internal ID12985236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573674..45616172hg38UCSC Ensembl
Innerchr17:43651040..43693538hg19UCSC Ensembl
Innerchr17:41006823..41049321hg18UCSC Ensembl
Innerchr17:41006823..41049321hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842499
hg1942499
hg1842499
hg1742499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv126e55
Supporting Variantsessv6978031, essv6986522
SamplesNA10859
Known GenesLOC644172
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)esv2751684
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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