A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7612n54



Internal ID20141036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54036316..54044202hg38UCSC Ensembl
chr20:52652855..52660741hg19UCSC Ensembl
chr20:52086262..52094148hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387887
hg197887
hg187887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586272, nsv586277
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7612n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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