A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762228



Internal ID10029578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236736718..236737237hg38UCSC Ensembl
Innerchr1:236900018..236900537hg19UCSC Ensembl
Innerchr1:234966641..234967160hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38520
hg19520
hg18520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007019
SamplesRW_0175
Known GenesACTN2
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)esv2762228
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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