A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008147



Internal ID10350327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139437827..139450933hg38UCSC Ensembl
Innerchr2:140195397..140208503hg19UCSC Ensembl
Innerchr2:139911867..139924973hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3813107
hg1913107
hg1813107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760553
Supporting Variants
SamplesRW_0636
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)essv7008147
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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