A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751043



Internal ID12637909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30995727..31346737hg38UCSC Ensembl
Innerchr12:31148662..31499671hg19UCSC Ensembl
Innerchr12:31039929..31390938hg18UCSC Ensembl
Innerchr12:31039929..31390938hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38351011
hg19351010
hg18351010
hg17351010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985030, essv6985029
SamplesBEC_821
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224, TSPAN11
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)esv2751043
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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