A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762221



Internal ID10029571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89610380..90039318hg38UCSC Ensembl
Innerchr16:89676788..90105726hg19UCSC Ensembl
Innerchr16:88204289..88633227hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38428939
hg19428939
hg18428939
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001494, essv7001497, essv7001495, essv7001498, essv7001496
SamplesSW_1000, SW_1086, SW_0773, SW_1077, SW_1201
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)esv2762221
Frequency
Sample Size1109
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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