A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992352



Internal ID10010551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8018582..8110806hg38UCSC Ensembl
Innerchr8:7876104..7968328hg19UCSC Ensembl
Innerchr8:7913514..8005738hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3892225
hg1992225
hg1892225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_0590
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)essv6992352
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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