A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995711



Internal ID10005980
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761299
Supporting Variants
SamplesSW_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)essv6995711
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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