A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986630



Internal ID12635365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128299..31331899hg38UCSC Ensembl
Innerchr12:31281233..31484833hg19UCSC Ensembl
Innerchr12:31172500..31376100hg18UCSC Ensembl
Innerchr12:31172500..31376100hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38203601
hg19203601
hg18203601
hg17203601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35092
Supporting Variants
SamplesNA19119
Known GenesFAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986630
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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