A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762252



Internal ID10029602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48327011..48513954hg38UCSC Ensembl
Innerchr2:48554150..48741093hg19UCSC Ensembl
Innerchr2:48407654..48594597hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38186944
hg19186944
hg18186944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007562
SamplesRW_0293
Known GenesFOXN2, PPP1R21
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)esv2762252
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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