A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7607n54



Internal ID20141031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54030387..54039654hg38UCSC Ensembl
chr20:52646926..52656193hg19UCSC Ensembl
chr20:52080333..52089600hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg389268
hg199268
hg189268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586231, nsv586242, nsv586263, nsv586252, nsv586238, nsv586233, nsv586255, nsv586240, nsv586241, nsv586239, nsv586243, nsv586232, nsv586254, nsv586253, nsv586234, nsv586264
SamplesHGDP00671, 1782681263_A, HGDP00741, HGDP00699
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7607n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss187
Observed Complex0
Frequencyn/a


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