A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv518n27



Internal ID22767247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62315508..62412954hg38UCSC Ensembl
chr20:60890564..60988010hg19UCSC Ensembl
chr20:60323959..60421405hg18UCSC Ensembl
chr20:60323959..60421405hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3897447
hg1997447
hg1897447
hg1797447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459060, nsv459062, nsv459061
SamplesHGDP00491, HGDP00433, HGDP01351
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv518n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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