A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984350



Internal ID12630162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31360784hg38UCSC Ensembl
Innerchr12:31281246..31513718hg19UCSC Ensembl
Innerchr12:31172513..31404985hg18UCSC Ensembl
Innerchr12:31172513..31404985hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38232473
hg19232473
hg18232473
hg17232473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751054
Supporting Variants
SamplesBEC_693
Known GenesFAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984350
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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