A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986802



Internal ID12979736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11825973..12221503hg38UCSC Ensembl
Innerchr20:11806621..12202151hg19UCSC Ensembl
Innerchr20:11754621..12150151hg18UCSC Ensembl
Innerchr20:11754621..12150151hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38395531
hg19395531
hg18395531
hg17395531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34727
Supporting Variants
SamplesNA18501
Known GenesBTBD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986802
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer