A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763996



Internal ID10031346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26423673..26465156hg38UCSC Ensembl
Innerchr6:26423901..26465384hg19UCSC Ensembl
Innerchr6:26531880..26573363hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3841484
hg1941484
hg1841484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031916, essv7031918, essv7031917
SamplesSW_1317, SW_1476, SW_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)esv2763996
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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