A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000737



Internal ID10026233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21582134..21731811hg38UCSC Ensembl
Innerchr16:21593455..21743132hg19UCSC Ensembl
Innerchr16:21500956..21650633hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38149678
hg19149678
hg18149678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762010
Supporting Variants
SamplesSW_1466
Known GenesIGSF6, METTL9, OTOA
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)essv7000737
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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