A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760480



Internal ID10376788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:60249170..60259331hg38UCSC Ensembl
Innerchr18:57916403..57926564hg19UCSC Ensembl
Innerchr18:56067383..56077544hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3810162
hg1910162
hg1810162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025065, essv7025062, essv7025068, essv7025067, essv7025063, essv7025064, essv7025061
SamplesRW_0354, RW_0116, RW_0100, RW_0528, RW_0666, RW_0223, RW_0213
Known Genes
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)esv2760480
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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