A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985675



Internal ID12973996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:15510155..15675355hg38UCSC Ensembl
Innerchr20:15490800..15656000hg19UCSC Ensembl
Innerchr20:15438800..15604000hg18UCSC Ensembl
Innerchr20:15438800..15604000hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38165201
hg19165201
hg18165201
hg17165201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751909
Supporting Variants
SamplesBEC_491
Known GenesMACROD2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985675
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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