A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv786n27



Internal ID20133044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162295509..162522029hg38UCSC Ensembl
chr6:162716541..162943061hg19UCSC Ensembl
chr6:162636531..162863051hg18UCSC Ensembl
chr6:162686952..162913472hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38226521
hg19226521
hg18226521
hg17226521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464105, nsv464103
Samples1780854305_A, 1782681296_A
Known GenesPARK2
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)dgv786n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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