A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016777



Internal ID10348439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46000405..46831640hg38UCSC Ensembl
Innerchr8:46912027..47743262hg19UCSC Ensembl
Innerchr8:47031192..47862427hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38831236
hg19831236
hg18831236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761184
Supporting Variants
SamplesRW_0591
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)essv7016777
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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