A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751900



Internal ID5952434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74722905..75041937hg38UCSC Ensembl
Innerchr2:74950032..75269064hg19UCSC Ensembl
Innerchr2:74803540..75122572hg18UCSC Ensembl
Innerchr2:74861687..75180719hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38319033
hg19319033
hg18319033
hg17319033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981089, essv6981088, essv6985472, essv6981090
SamplesBEC_351
Known GenesHK2, POLE4
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)esv2751900
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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