A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017099



Internal ID10340394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101608378..101613484hg38UCSC Ensembl
Innerchr8:102620606..102625712hg19UCSC Ensembl
Innerchr8:102689782..102694888hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg385107
hg195107
hg185107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761235
Supporting Variants
SamplesRW_0220
Known GenesGRHL2
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)essv7017099
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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