A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014009



Internal ID10346547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:86696922..86701400hg38UCSC Ensembl
Innerchr6:87406640..87411118hg19UCSC Ensembl
Innerchr6:87463359..87467837hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg384479
hg194479
hg184479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761012
Supporting Variants
SamplesRW_0538
Known Genes
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)essv7014009
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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