A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981830



Internal ID12973988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:15509226..15637435hg38UCSC Ensembl
Innerchr20:15489871..15618080hg19UCSC Ensembl
Innerchr20:15437871..15566080hg18UCSC Ensembl
Innerchr20:15437871..15566080hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38128210
hg19128210
hg18128210
hg17128210
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981830
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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