A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760609



Internal ID10376916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97043979..97348019hg38UCSC Ensembl
Innerchr2:97709716..98025647hg19UCSC Ensembl
Innerchr2:97073443..97391786hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38304041
hg19315932
hg18318344
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007890, essv7007885, essv7007898, essv7007887, essv7007896, essv7007895, essv7007888, essv7007899, essv7007897, essv7007893, essv7007901, essv7007892, essv7007886, essv7007891, essv7007894, essv7007902
SamplesRW_0208, RW_0169, RW_0203, RW_0312, RW_0188, RW_0217, RW_0614, RW_0125, RW_0615, RW_0358, RW_0233, RW_0568, RW_0318, RW_0289, RW_0278, RW_0110
Known GenesANKRD36, FAHD2B, LOC100506076, LOC100506123
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)esv2760609
Frequency
Sample Size1109
Observed Gain14
Observed Loss2
Observed Complex0
Frequencyn/a


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