A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764223



Internal ID10378259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165452391..165454933hg38UCSC Ensembl
Innerchr1:165421628..165424170hg19UCSC Ensembl
Innerchr1:163688252..163690794hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382543
hg192543
hg182543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006627, essv7006618, essv7006623, essv7006621, essv7006626, essv7006620, essv7006625, essv7006619, essv7006624
SamplesRW_0525, RW_0100, RW_0512, RW_0111, RW_0664, RW_0032, RW_0238, RW_0139, RW_0532
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)esv2764223
Frequency
Sample Size1109
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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