A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760922



Internal ID10377229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119672360..119684281hg38UCSC Ensembl
Innerchr5:119008055..119019976hg19UCSC Ensembl
Innerchr5:119035954..119047875hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3811922
hg1911922
hg1811922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013066, essv7013068
SamplesRW_0197, RW_0587
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)esv2760922
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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