A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978720



Internal ID12632332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31232741hg38UCSC Ensembl
Innerchr12:31281246..31385675hg19UCSC Ensembl
Innerchr12:31172513..31276942hg18UCSC Ensembl
Innerchr12:31172513..31276942hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38104430
hg19104430
hg18104430
hg17104430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751063
Supporting Variants
SamplesNA12156
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978720
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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