A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003186



Internal ID10018293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8567703..9197018hg38UCSC Ensembl
Innerchr19:8632587..9307694hg19UCSC Ensembl
Innerchr19:8538587..9168694hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38629316
hg19675108
hg18630108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762024
Supporting Variants
SamplesSW_1121
Known GenesACTL9, ADAMTS10, MBD3L1, MUC16, MYO1F, OR1M1, OR2Z1, OR7D2, OR7G1, OR7G2, OR7G3, ZNF317, ZNF558
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)essv7003186
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