A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv516n27



Internal ID22767245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61693013..61729784hg38UCSC Ensembl
chr20:60268069..60304840hg19UCSC Ensembl
chr20:59701464..59738235hg18UCSC Ensembl
chr20:59701464..59738235hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3836772
hg1936772
hg1836772
hg1736772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459054, nsv459055, nsv459053
SamplesHGDP00033, HGDP00161, HGDP00208
Known GenesCDH4
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)dgv516n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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