A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84197



Internal ID11394144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32510376..32554152hg38UCSC Ensembl
Innerchr6:32478153..32521929hg19UCSC Ensembl
Innerchr6:32586131..32629907hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3843777
hg1943777
hg1843777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv29958
Supporting Variants
SamplesWATSON
Known GenesHLA-DRB5, HLA-DRB6
MethodOligo aCGH
AnalysisThe data were analyzed using the CGH Analytics software.
PlatformAgilent-014584 Human Genome 244K CGH Microarray (Alpha Test)
Comments
ReferenceWheeler_et_al_2008
Pubmed ID18421352
Accession Number(s)essv84197
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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