A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995722



Internal ID10025690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148577601..148715916hg38UCSC Ensembl
Innerchr1:145172985..145311536hg19UCSC Ensembl
Innerchr1:143884342..144022893hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38138316
hg19138552
hg18138552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761299
Supporting Variants
SamplesSW_1439
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)essv6995722
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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