A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762750



Internal ID10375548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72889226..72927081hg38UCSC Ensembl
Innerchr8:73801461..73839316hg19UCSC Ensembl
Innerchr8:73964015..74001870hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3837856
hg1937856
hg1837856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016954
SamplesRW_0207
Known GenesKCNB2
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)esv2762750
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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