A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006595



Internal ID10333669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158547206..158553881hg38UCSC Ensembl
Innerchr1:158516996..158523671hg19UCSC Ensembl
Innerchr1:156783620..156790295hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386676
hg196676
hg186676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764188
Supporting Variants
SamplesRW_0056
Known GenesOR6Y1
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)essv7006595
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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