A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016936



Internal ID9986627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67635224..67644593hg38UCSC Ensembl
Innerchr8:68547459..68556828hg19UCSC Ensembl
Innerchr8:68710013..68719382hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg389370
hg199370
hg189370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761195
Supporting Variants
SamplesRW_0045
Known GenesCPA6
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)essv7016936
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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