A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751053



Internal ID12637919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072776..31331947hg38UCSC Ensembl
Innerchr12:31225710..31484881hg19UCSC Ensembl
Innerchr12:31116977..31376148hg18UCSC Ensembl
Innerchr12:31116977..31376148hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38259172
hg19259172
hg18259172
hg17259172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e55
Supporting Variantsessv6986481, essv6983645
SamplesBEC_676
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224
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)esv2751053
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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