A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989832



Internal ID12629925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14680254..15045454hg38UCSC Ensembl
Innerchr20:14660900..15026100hg19UCSC Ensembl
Innerchr20:14608900..14974100hg18UCSC Ensembl
Innerchr20:14608900..14974100hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38365201
hg19365201
hg18365201
hg17365201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751906
Supporting Variants
SamplesBEC_674
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989832
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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