A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005183



Internal ID9992726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21983381..22015896hg38UCSC Ensembl
Innerchr1:22309874..22342389hg19UCSC Ensembl
Innerchr1:22182461..22214976hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3832516
hg1932516
hg1832516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764236
Supporting Variants
SamplesRW_0197
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)essv7005183
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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