A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760923



Internal ID10377230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29512005..29716545hg38UCSC Ensembl
Innerchr5:29512112..29716652hg19UCSC Ensembl
Innerchr5:29547869..29752409hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38204541
hg19204541
hg18204541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012735, essv7012734, essv7012736, essv7012733, essv7012731
SamplesRW_0509, RW_0065, RW_0020, RW_0669, RW_0191
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)esv2760923
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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