A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762796



Internal ID10375594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121776343..122084763hg38UCSC Ensembl
Innerchr2:122533919..122842339hg19UCSC Ensembl
Innerchr2:122250389..122558809hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38308421
hg19308421
hg18308421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017600
SamplesSW_1294
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)esv2762796
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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