A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751118



Internal ID12984670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864877..8037610hg38UCSC Ensembl
Innerchr12:8017473..8190206hg19UCSC Ensembl
Innerchr12:7908740..8081473hg18UCSC Ensembl
Innerchr12:7908740..8081473hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38172734
hg19172734
hg18172734
hg17172734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984996, essv6987138, essv6984997
SamplesSPC_3
Known GenesFOXJ2, SLC2A14, SLC2A3
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)esv2751118
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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