A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761394



Internal ID10374192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:700968..854828hg38UCSC Ensembl
Innerchr8:650968..804828hg19UCSC Ensembl
Innerchr8:640968..794828hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38153861
hg19153861
hg18153861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992002
SamplesSW_0354
Known GenesERICH1, ERICH1-AS1
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)esv2761394
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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