A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031917



Internal ID10008577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26427834..26464561hg38UCSC Ensembl
Innerchr6:26428062..26464789hg19UCSC Ensembl
Innerchr6:26536041..26572768hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3836728
hg1936728
hg1836728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763996
Supporting Variants
SamplesSW_0215
Known GenesBTN2A1, BTN2A3P, BTN3A3
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)essv7031917
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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