A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003479



Internal ID10023464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42816985..42980783hg38UCSC Ensembl
Innerchr19:43321137..43484935hg19UCSC Ensembl
Innerchr19:48012977..48176775hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38163799
hg19163799
hg18163799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763121
Supporting Variants
SamplesSW_1345
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
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)essv7003479
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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