A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762962



Internal ID10377673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172628350..172662583hg38UCSC Ensembl
Innerchr2:173493078..173527311hg19UCSC Ensembl
Innerchr2:173201324..173235557hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3834234
hg1934234
hg1834234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020377
SamplesSW_1472
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)esv2762962
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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