A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000840



Internal ID10010717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32268913..33952524hg38UCSC Ensembl
Innerchr16:32280234..33754991hg19UCSC Ensembl
Innerchr16:32187735..33662492hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381683612
hg191474758
hg181474758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762243
Supporting Variants
SamplesSW_0604
Known GenesLOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
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)essv7000840
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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