A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760573



Internal ID10027935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55675881..55714305hg38UCSC Ensembl
Innerchr2:55903016..55941440hg19UCSC Ensembl
Innerchr2:55756520..55794944hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3838425
hg1938425
hg1838425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007653, essv7007654, essv7007652, essv7007651, essv7007649, essv7007650
SamplesRW_0254, RW_0615, RW_0113, RW_0267, RW_0607, RW_0534
Known GenesPNPT1
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)esv2760573
Frequency
Sample Size1109
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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