A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993397



Internal ID10351776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114650365..114826188hg38UCSC Ensembl
Innerchr8:115662594..115838417hg19UCSC Ensembl
Innerchr8:115731770..115907593hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38175824
hg19175824
hg18175824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761462
Supporting Variants
SamplesSW_0015
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)essv6993397
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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