A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000839



Internal ID10009393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32268913..33878634hg38UCSC Ensembl
Innerchr16:32280234..33681101hg19UCSC Ensembl
Innerchr16:32187735..33588602hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381609722
hg191400868
hg181400868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762243
Supporting Variants
SamplesSW_0340
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)essv7000839
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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