A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760299



Internal ID10376607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21983381..22011632hg38UCSC Ensembl
Innerchr1:22309874..22338125hg19UCSC Ensembl
Innerchr1:22182461..22210712hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3828252
hg1928252
hg1828252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008633, essv7008299, essv7008188, essv7008077, essv7008522, essv7008410
SamplesSW_1125, SW_0285, SW_0086, SW_1031, SW_0883, SW_0148
Known GenesCELA3A, CELA3B
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)esv2760299
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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