A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024750



Internal ID9994157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46351315..46480541hg38UCSC Ensembl
Innerchr17:44428681..44557907hg19UCSC Ensembl
Innerchr17:41784437..41913223hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38129227
hg19129227
hg18128787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760451
Supporting Variants
SamplesRW_0229
Known GenesARL17A, ARL17B, NSFP1
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)essv7024750
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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