A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000735



Internal ID10006666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21552783..21828019hg38UCSC Ensembl
Innerchr16:21564104..21839340hg19UCSC Ensembl
Innerchr16:21471605..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38275237
hg19275237
hg18275237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762010
Supporting Variants
SamplesSW_0101
Known GenesIGSF6, METTL9, OTOA, RRN3P1
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)essv7000735
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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