A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023771



Internal ID9987786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32135565..32269035hg38UCSC Ensembl
Innerchr16:32146886..32280356hg19UCSC Ensembl
Innerchr16:32054387..32187857hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38133471
hg19133471
hg18133471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760413
Supporting Variants
SamplesRW_0077
Known GenesHERC2P4, TP53TG3D
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)essv7023771
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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