A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992355



Internal ID10010166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8078333..8160516hg38UCSC Ensembl
Innerchr8:7935855..8018038hg19UCSC Ensembl
Innerchr8:7973265..8055448hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3882184
hg1982184
hg1882184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_0577
Known GenesMIR548I3
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)essv6992355
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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