A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009845



Internal ID10339427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176216825..176231864hg38UCSC Ensembl
Innerchr3:175934613..175949652hg19UCSC Ensembl
Innerchr3:177417307..177432346hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3815040
hg1915040
hg1815040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760791
Supporting Variants
SamplesRW_0200
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)essv7009845
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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