A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000810



Internal ID10021754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32095646..34026287hg38UCSC Ensembl
Innerchr16:32106967..33828754hg19UCSC Ensembl
Innerchr16:32014468..33736255hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381930642
hg191721788
hg181721788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762243
Supporting Variants
SamplesSW_1268
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, 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)essv7000810
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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