A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751906



Internal ID12638772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14677718..15045454hg38UCSC Ensembl
Innerchr20:14658364..15026100hg19UCSC Ensembl
Innerchr20:14606364..14974100hg18UCSC Ensembl
Innerchr20:14606364..14974100hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38367737
hg19367737
hg18367737
hg17367737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989382, essv6983625, essv6983626, essv6989832
SamplesBEC_674
Known GenesMACROD2, MACROD2-AS1
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)esv2751906
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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