A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762588



Internal ID10029938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3602274..3654159hg38UCSC Ensembl
Innerchr17:3505568..3557453hg19UCSC Ensembl
Innerchr17:3452317..3504202hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3851886
hg1951886
hg1851886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001507, essv7001506, essv7001505
SamplesSW_0875, SW_0702, SW_1119
Known GenesCTNS, SHPK, TRPV1
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)esv2762588
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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