A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751107



Internal ID12984659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59858219..59959752hg38UCSC Ensembl
Innerchr12:60252000..60353533hg19UCSC Ensembl
Innerchr12:58538267..58639800hg18UCSC Ensembl
Innerchr12:58538267..58639800hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38101534
hg19101534
hg18101534
hg17101534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984342, essv6987565
SamplesBEC_692
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751107
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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