A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751066



Internal ID12637932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31261499hg38UCSC Ensembl
Innerchr12:31239600..31414433hg19UCSC Ensembl
Innerchr12:31130867..31305700hg18UCSC Ensembl
Innerchr12:31130867..31305700hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38174834
hg19174834
hg18174834
hg17174834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6988431, essv6985624, essv6981639, essv6981640, essv6985625
SamplesBEC_311
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)esv2751066
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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