A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981282



Internal ID12626426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31042338..31253875hg38UCSC Ensembl
Innerchr12:31195272..31406809hg19UCSC Ensembl
Innerchr12:31086539..31298076hg18UCSC Ensembl
Innerchr12:31086539..31298076hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38211538
hg19211538
hg18211538
hg17211538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751047
Supporting Variants
SamplesBEC_377
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981282
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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