A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992370



Internal ID10020791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8229622..8292820hg38UCSC Ensembl
Innerchr8:8087144..8150342hg19UCSC Ensembl
Innerchr8:8124554..8187752hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3863199
hg1963199
hg1863199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_1224
Known GenesFAM86B3P
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)essv6992370
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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