A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751108



Internal ID12984660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63052153..63110172hg38UCSC Ensembl
Innerchr12:63445933..63503952hg19UCSC Ensembl
Innerchr12:61732200..61790219hg18UCSC Ensembl
Innerchr12:61732200..61790219hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3858020
hg1958020
hg1858020
hg1758020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988806, essv6984460, essv6984459, essv6984458
SamplesBEC_708
Known Genes
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)esv2751108
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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