A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751077



Internal ID12637943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31346737hg38UCSC Ensembl
Innerchr12:31278031..31499671hg19UCSC Ensembl
Innerchr12:31169298..31390938hg18UCSC Ensembl
Innerchr12:31169298..31390938hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38221641
hg19221641
hg18221641
hg17221641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e55
Supporting Variantsessv6983689, essv6983690
SamplesBEC_613
Known GenesFAM60A, FLJ13224
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)esv2751077
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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