A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981068



Internal ID12972749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:88767..205764hg38UCSC Ensembl
Innerchr20:69408..186405hg19UCSC Ensembl
Innerchr20:17408..134405hg18UCSC Ensembl
Innerchr20:17408..134405hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38116998
hg19116998
hg18116998
hg17116998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751910
Supporting Variants
SamplesBEC_348
Known GenesDEFB125, DEFB126, DEFB127, DEFB128
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981068
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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