A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017047



Internal ID10001366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85398353..85556639hg38UCSC Ensembl
Innerchr8:86310582..86468868hg19UCSC Ensembl
Innerchr8:86497834..86656120hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38158287
hg19158287
hg18158287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761206
Supporting Variants
SamplesRW_0582
Known GenesCA2, CA3
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)essv7017047
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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