A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760978



Internal ID10377285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174213141..174214492hg38UCSC Ensembl
Innerchr5:173640144..173641495hg19UCSC Ensembl
Innerchr5:173572750..173574101hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381352
hg191352
hg181352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013373, essv7013372, essv7013371
SamplesRW_0203, RW_0158, RW_0197
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)esv2760978
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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