A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751055



Internal ID12637921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31249799hg38UCSC Ensembl
Innerchr12:31239600..31402733hg19UCSC Ensembl
Innerchr12:31130867..31294000hg18UCSC Ensembl
Innerchr12:31130867..31294000hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38163134
hg19163134
hg18163134
hg17163134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6985197, essv6987189, essv6985198
SamplesSPC_124
Known GenesDDX11
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)esv2751055
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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