A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762779



Internal ID10375577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108960382..108969981hg38UCSC Ensembl
Innerchr2:109576838..109586437hg19UCSC Ensembl
Innerchr2:108943270..108952869hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg389600
hg199600
hg189600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017377
SamplesSW_0311
Known GenesEDAR
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)esv2762779
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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