A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024769



Internal ID10341606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53932708..54059858hg38UCSC Ensembl
Innerchr17:52010069..52137219hg19UCSC Ensembl
Innerchr17:49365068..49492218hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38127151
hg19127151
hg18127151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760458
Supporting Variants
SamplesRW_0250
Known GenesMIR548AJ2
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)essv7024769
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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