A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760541



Internal ID10376849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208072225..208080915hg38UCSC Ensembl
Innerchr2:208936949..208945639hg19UCSC Ensembl
Innerchr2:208645194..208653884hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388691
hg198691
hg188691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008619, essv7008618, essv7008617, essv7008621, essv7008620
SamplesRW_0058, RW_0006, RW_0017, RW_0171, RW_0571
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)esv2760541
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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