A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024908



Internal ID10348721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14071226..14264322hg38UCSC Ensembl
Innerchr18:14071225..14264321hg19UCSC Ensembl
Innerchr18:14061225..14254321hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38193097
hg19193097
hg18193097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760500
Supporting Variants
SamplesRW_0599
Known GenesANKRD20A5P, ZNF519
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)essv7024908
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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