A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760736



Internal ID10028098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62681587..62709238hg38UCSC Ensembl
Innerchr3:62667262..62694913hg19UCSC Ensembl
Innerchr3:62642302..62669953hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3827652
hg1927652
hg1827652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009064, essv7009063, essv7009065, essv7009062
SamplesRW_0269, RW_0021, RW_0351, RW_0078
Known GenesCADPS
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)esv2760736
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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