A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv60n27



Internal ID22766789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236440911..236618639hg38UCSC Ensembl
chr1:236604211..236781939hg19UCSC Ensembl
chr1:234670834..234848562hg18UCSC Ensembl
chr1:232930252..233107980hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38177729
hg19177729
hg18177729
hg17177729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468461, nsv468472
SamplesHGDP01202, HGDP00021
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
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)dgv60n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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