A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760748



Internal ID10028110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62724674..62730233hg38UCSC Ensembl
Innerchr3:62710349..62715908hg19UCSC Ensembl
Innerchr3:62685389..62690948hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg385560
hg195560
hg185560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009068, essv7009067, essv7009069
SamplesRW_0123, RW_0629, RW_0062
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)esv2760748
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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