A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763343



Internal ID10376023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76315875..76359585hg38UCSC Ensembl
Innerchr2:76543001..76586711hg19UCSC Ensembl
Innerchr2:76396509..76440219hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3843711
hg1943711
hg1843711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014778, essv7014767, essv7014789, essv7014756
SamplesSW_0142, SW_1375, SW_0873, SW_1467
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)esv2763343
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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