A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032060



Internal ID10366511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32480321..32576532hg38UCSC Ensembl
Innerchr6:32448098..32544309hg19UCSC Ensembl
Innerchr6:32556076..32652287hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3896212
hg1996212
hg1896212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763944
Supporting Variants
SamplesSW_1184
Known GenesHLA-DRB5, HLA-DRB6
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7032060
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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