A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751068



Internal ID12637934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31261539hg38UCSC Ensembl
Innerchr12:31239600..31414473hg19UCSC Ensembl
Innerchr12:31130867..31305740hg18UCSC Ensembl
Innerchr12:31130867..31305740hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38174874
hg19174874
hg18174874
hg17174874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6983414, essv6986427, essv6983413
SamplesBEC_651
Known GenesDDX11
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)esv2751068
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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