A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7592n54



Internal ID20141016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45722456..45749938hg38UCSC Ensembl
chr20:44351095..44378577hg19UCSC Ensembl
chr20:43784509..43811984hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3827483
hg1927483
hg1827476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586129, nsv586123, nsv586125, nsv586130, nsv586128, nsv586124
SamplesHGDP00795, HGDP00797, HGDP00806, HGDP00799, HGDP01079, HGDP01376
Known GenesSPINT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7592n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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