A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024339



Internal ID9986157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109735..36215889hg38UCSC Ensembl
Innerchr17:34437128..34543343hg19UCSC Ensembl
Innerchr17:31461241..31567456hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38106155
hg19106216
hg18106216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760467
Supporting Variants
SamplesRW_0030
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, 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)essv7024339
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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