A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751686



Internal ID1703814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44039564..44364056hg19UCSC Ensembl
Innerchr17:41395400..41719833hg18UCSC Ensembl
Innerchr17:41395400..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6981253, essv6981254
SamplesBEC_374
Known GenesKIAA1267, LOC644246, MAPT, STH
Method
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set (Pinto2007.txt)
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751686
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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