A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762769



Internal ID10030119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124155015..124468333hg38UCSC Ensembl
Innerchr8:125167256..125480574hg19UCSC Ensembl
Innerchr8:125236437..125549755hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38313319
hg19313319
hg18313319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017285
SamplesRW_0073
Known GenesFER1L6-AS2, RNF139-AS1, TMEM65, TRMT12
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)esv2762769
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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