A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760481



Internal ID10376789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:73757807..73766781hg38UCSC Ensembl
Innerchr18:71425042..71434016hg19UCSC Ensembl
Innerchr18:69576022..69584996hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg388975
hg198975
hg188975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025271, essv7025268, essv7025266, essv7025263, essv7025262, essv7025277, essv7025261, essv7025270, essv7025276, essv7025260, essv7025273, essv7025265, essv7025272, essv7025274, essv7025269, essv7025264, essv7025275
SamplesRW_0138, RW_0595, RW_0146, RW_0629, RW_0255, RW_0617, RW_0549, RW_0173, RW_0005, RW_0221, RW_0176, RW_0222, RW_0625, RW_0249, RW_0231, RW_0621, RW_0184
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)esv2760481
Frequency
Sample Size1109
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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