A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763135



Internal ID10030485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21503753..21776197hg38UCSC Ensembl
Innerchr16:21515074..21787518hg19UCSC Ensembl
Innerchr16:21422575..21695019hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38272445
hg19272445
hg18272445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023724
SamplesRW_0329
Known GenesIGSF6, METTL9, OTOA, SLC7A5P2
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)esv2763135
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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