A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014353



Internal ID9994533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162291315..162329060hg38UCSC Ensembl
Innerchr6:162712347..162750092hg19UCSC Ensembl
Innerchr6:162632337..162670082hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3837746
hg1937746
hg1837746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761064
Supporting Variants
SamplesRW_0238
Known GenesPARK2
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)essv7014353
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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