A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751086



Internal ID12984638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31838599..31921794hg38UCSC Ensembl
Innerchr12:31991533..32074728hg19UCSC Ensembl
Innerchr12:31882800..31965995hg18UCSC Ensembl
Innerchr12:31882800..31965995hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3883196
hg1983196
hg1883196
hg1783196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e55
Supporting Variantsessv6988883, essv6985039, essv6985038, essv6985040
SamplesBEC_826
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)esv2751086
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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