A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001495



Internal ID10012716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89617393..90038053hg38UCSC Ensembl
Innerchr16:89683801..90104461hg19UCSC Ensembl
Innerchr16:88211302..88631962hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38420661
hg19420661
hg18420661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762221
Supporting Variants
SamplesSW_0773
Known GenesAFG3L1P, C16orf3, CDK10, CENPBD1, CHMP1A, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, SPATA2L, SPATA33, SPIRE2, TCF25, TUBB3, VPS9D1, VPS9D1-AS1, ZNF276
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)essv7001495
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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