A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001874



Internal ID10022344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36060272..36157718hg38UCSC Ensembl
Innerchr17:34387631..34485091hg19UCSC Ensembl
Innerchr17:31411744..31509204hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3897447
hg1997461
hg1897461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762388
Supporting Variants
SamplesSW_1288
Known GenesCCL18, CCL3, CCL4
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)essv7001874
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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