A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762431



Internal ID10375229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26826966..26838385hg38UCSC Ensembl
Innerchr2:27049834..27061253hg19UCSC Ensembl
Innerchr2:26903338..26914757hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3811420
hg1911420
hg1811420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010867
SamplesSW_1132
Known Genes
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)esv2762431
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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