A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002653



Internal ID10372521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66611217..66626079hg38UCSC Ensembl
Innerchr17:64607335..64622197hg19UCSC Ensembl
Innerchr17:62037797..62052659hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3814863
hg1914863
hg1814863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761972
Supporting Variants
SamplesSW_1447
Known GenesPRKCA
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)essv7002653
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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