A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760628



Internal ID10376935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4135517..4141108hg38UCSC Ensembl
Innerchr2:4183107..4188698hg19UCSC Ensembl
Innerchr2:4160982..4166573hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg385592
hg195592
hg185592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007205, essv7007204, essv7007203
SamplesRW_0181, RW_0515, RW_0235
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)esv2760628
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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