A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv754n27



Internal ID22767483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:60567846..61107733hg38UCSC Ensembl
chr6:57535593..58075480hg19UCSC Ensembl
chr6:57643552..58183439hg18UCSC Ensembl
chr6:57643552..58183439hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38539888
hg19539888
hg18539888
hg17539888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462952, nsv462954, nsv462953
SamplesHGDP01379, HGDP00925, HGDP00540
Known Genes
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)dgv754n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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