A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982985



Internal ID12627942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31237969hg38UCSC Ensembl
Innerchr12:31281246..31390903hg19UCSC Ensembl
Innerchr12:31172513..31282170hg18UCSC Ensembl
Innerchr12:31172513..31282170hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38109658
hg19109658
hg18109658
hg17109658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751056
Supporting Variants
SamplesBEC_531
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982985
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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