A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017377



Internal ID10355932
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 StatusS
Merged Variantsesv2762779
Supporting Variants
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)essv7017377
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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