A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760791



Internal ID10377098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176170271..176237213hg38UCSC Ensembl
Innerchr3:175888059..175955001hg19UCSC Ensembl
Innerchr3:177370753..177437695hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3866943
hg1966943
hg1866943
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009837, essv7009838, essv7009839, essv7009843, essv7009842, essv7009835, essv7009845, essv7009840, essv7009836, essv7009834, essv7009831, essv7009841, essv7009832
SamplesRW_0312, RW_0555, RW_0136, RW_0592, RW_0111, RW_0659, RW_0204, RW_0200, RW_0284, RW_0306, RW_0209, RW_0336, RW_0532
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)esv2760791
Frequency
Sample Size1109
Observed Gain10
Observed Loss3
Observed Complex0
Frequencyn/a


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