A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000536



Internal ID10022065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14794738..15022400hg38UCSC Ensembl
Innerchr16:14888595..15116257hg19UCSC Ensembl
Innerchr16:14796096..15023758hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38227663
hg19227663
hg18227663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762254
Supporting Variants
SamplesSW_1281
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, PDXDC1
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)essv7000536
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer