A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993464



Internal ID10355618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:137831925..137948588hg38UCSC Ensembl
Innerchr8:138844168..138960831hg19UCSC Ensembl
Innerchr8:138913350..139030013hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38116664
hg19116664
hg18116664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764111
Supporting Variants
SamplesSW_0256
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)essv6993464
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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