A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv739n27



Internal ID20132997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29865764..29901207hg38UCSC Ensembl
chr6:29833541..29868984hg19UCSC Ensembl
chr6:29941520..29976963hg18UCSC Ensembl
chr6:29941520..29976963hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3835444
hg1935444
hg1835444
hg1735444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462674, nsv462675
SamplesHGDP00098, HGDP00058
Known GenesHLA-H
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)dgv739n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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