A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751110



Internal ID12637976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545953..63880900hg38UCSC Ensembl
Innerchr12:63939733..64274680hg19UCSC Ensembl
Innerchr12:62226000..62560947hg18UCSC Ensembl
Innerchr12:62226000..62560947hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38334948
hg19334948
hg18334948
hg17334948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987660, essv6988840, essv6984722
SamplesSPC_169
Known GenesDPY19L2, SRGAP1, TMEM5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751110
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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