A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032985



Internal ID10005239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:85938269..87211344hg38UCSC Ensembl
Innerchr6:86647987..87921062hg19UCSC Ensembl
Innerchr6:86704706..87977781hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg381273076
hg191273076
hg181273076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763585
Supporting Variants
SamplesSW_0019
Known GenesCGA, HTR1E, MIR548AD, ZNF292
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)essv7032985
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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