A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751046



Internal ID12637912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31021299..31531799hg38UCSC Ensembl
Innerchr12:31174233..31684733hg19UCSC Ensembl
Innerchr12:31065500..31576000hg18UCSC Ensembl
Innerchr12:31065500..31576000hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38510501
hg19510501
hg18510501
hg17510501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983055, essv6983056
SamplesBEC_538
Known GenesDDX11, DDX11-AS1, DENND5B, FAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751046
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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