A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv168e55



Internal ID22761118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11825952..12302052hg38UCSC Ensembl
chr20:11806600..12282700hg19UCSC Ensembl
chr20:11754600..12230700hg18UCSC Ensembl
chr20:11754600..12230700hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38476101
hg19476101
hg18476101
hg17476101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34746, esv34727
SamplesNA18501, NA18500
Known GenesBTBD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv168e55
Frequency
Sample Size771
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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