A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002054



Internal ID10015417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36116419..36208249hg38UCSC Ensembl
Innerchr17:34443800..34535651hg19UCSC Ensembl
Innerchr17:31467913..31559764hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3891831
hg1991852
hg1891852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762388
Supporting Variants
SamplesSW_1026
Known GenesCCL3L1, CCL3L3, TBC1D3B
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)essv7002054
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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