A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017364



Internal ID9988648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:145062930..145072769hg38UCSC Ensembl
Innerchr8:146288316..146298155hg19UCSC Ensembl
Innerchr8:146259120..146268959hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389840
hg199840
hg189840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761199
Supporting Variants
SamplesRW_0101
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)essv7017364
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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