A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751047



Internal ID12637913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31042338..31257350hg38UCSC Ensembl
Innerchr12:31195272..31410284hg19UCSC Ensembl
Innerchr12:31086539..31301551hg18UCSC Ensembl
Innerchr12:31086539..31301551hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38215013
hg19215013
hg18215013
hg17215013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e55
Supporting Variantsessv6981282, essv6988381, essv6985528
SamplesBEC_377
Known GenesDDX11, DDX11-AS1
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)esv2751047
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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