A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751051



Internal ID12637917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072776..31253999hg38UCSC Ensembl
Innerchr12:31225710..31406933hg19UCSC Ensembl
Innerchr12:31116977..31298200hg18UCSC Ensembl
Innerchr12:31116977..31298200hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38181224
hg19181224
hg18181224
hg17181224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6984529, essv6987611, essv6984528
SamplesBEC_715
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751051
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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