A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009544



Internal ID10364445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5792521..5799481hg38UCSC Ensembl
Innerchr2:5932653..5939613hg19UCSC Ensembl
Innerchr2:5850104..5857064hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386961
hg196961
hg186961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762353
Supporting Variants
SamplesSW_1105
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)essv7009544
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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