A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762260



Internal ID10375058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67121865..67134826hg38UCSC Ensembl
Innerchr2:67348997..67361958hg19UCSC Ensembl
Innerchr2:67202501..67215462hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3812962
hg1912962
hg1812962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007682
SamplesRW_0536
Known GenesLOC644838
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)esv2762260
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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