A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024309



Internal ID9994353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36108119..36265379hg38UCSC Ensembl
Innerchr17:34435512..34629696hg19UCSC Ensembl
Innerchr17:31459625..31653809hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38157261
hg19194185
hg18194185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760467
Supporting Variants
SamplesRW_0233
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
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)essv7024309
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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