A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764208



Internal ID10378244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190154065..190174075hg38UCSC Ensembl
Innerchr1:190123195..190143205hg19UCSC Ensembl
Innerchr1:188389818..188409828hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3820011
hg1920011
hg1820011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006743, essv7006747, essv7006746
SamplesRW_0607, RW_0232, RW_0170
Known GenesBRINP3
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)esv2764208
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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