A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763289



Internal ID10375969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40450731..40458347hg38UCSC Ensembl
Innerchr1:40916403..40924019hg19UCSC Ensembl
Innerchr1:40688990..40696606hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387617
hg197617
hg187617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027668
SamplesSW_1289
Known GenesZFP69B
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)esv2763289
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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