A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762190



Internal ID10029540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148577601..148612842hg38UCSC Ensembl
Innerchr1:145276271..145311536hg19UCSC Ensembl
Innerchr1:143987628..144022893hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3835242
hg1935266
hg1835266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006207
SamplesRW_0543
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL
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)esv2762190
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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