A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760486



Internal ID10376794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42357227..42363228hg38UCSC Ensembl
Innerchr18:39937192..39943193hg19UCSC Ensembl
Innerchr18:38191190..38197191hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg386002
hg196002
hg186002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024993, essv7024994, essv7024991, essv7024988, essv7024987, essv7024990, essv7024992
SamplesRW_0500, RW_0171, RW_0065, RW_0552, RW_0653, RW_0529, RW_0014
Known GenesLINC00907
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)esv2760486
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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