A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751900



Internal ID1704028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74950032..75269064hg19UCSC Ensembl
Innerchr2:74803540..75122572hg18UCSC Ensembl
Innerchr2:74861687..75180719hg17UCSC Ensembl
Cytoband2p12
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 Variantsessv6981089, essv6981088, essv6985472, essv6981090
SamplesBEC_351
Known GenesHK2, POLE4
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)esv2751900
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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