A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761299



Internal ID10028661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146068341..148926801hg38UCSC Ensembl
Innerchr1:144957688..145366695hg19UCSC Ensembl
Innerchr1:143669045..144078052hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382858461
hg19409008
hg18409008
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995733, essv6995722, essv6995711
SamplesSW_1439, SW_0855, SW_0060
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
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)esv2761299
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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