A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001511



Internal ID10025168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4401508..4476552hg38UCSC Ensembl
Innerchr17:4304803..4379847hg19UCSC Ensembl
Innerchr17:4251552..4326596hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3875045
hg1975045
hg1875045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762544
Supporting Variants
SamplesSW_1422
Known GenesSPNS3
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)essv7001511
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