A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983625



Internal ID12976601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14677718..15039372hg38UCSC Ensembl
Innerchr20:14658364..15020018hg19UCSC Ensembl
Innerchr20:14606364..14968018hg18UCSC Ensembl
Innerchr20:14606364..14968018hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38361655
hg19361655
hg18361655
hg17361655
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983625
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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