A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751910



Internal ID12985462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:88767..232882hg38UCSC Ensembl
Innerchr20:69408..213523hg19UCSC Ensembl
Innerchr20:17408..161523hg18UCSC Ensembl
Innerchr20:17408..161523hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38144116
hg19144116
hg18144116
hg17144116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987905, essv6981068, essv6981069
SamplesBEC_348
Known GenesDEFB125, DEFB126, DEFB127, DEFB128, DEFB129
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)esv2751910
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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