A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016774



Internal ID10347002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40326629..40335391hg38UCSC Ensembl
Innerchr8:40184148..40192910hg19UCSC Ensembl
Innerchr8:40303305..40312067hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg388763
hg198763
hg188763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761194
Supporting Variants
SamplesRW_0550
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)essv7016774
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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