A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027081



Internal ID10352205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:39721253..39747700hg38UCSC Ensembl
Innerchr3:39762744..39789191hg19UCSC Ensembl
Innerchr3:39737748..39764195hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3826448
hg1926448
hg1826448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763743
Supporting Variants
SamplesSW_0033
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)essv7027081
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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