A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025680



Internal ID9991784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42776076..43076415hg38UCSC Ensembl
Innerchr19:43280228..43580567hg19UCSC Ensembl
Innerchr19:47972068..48272407hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38300340
hg19300340
hg18300340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760524
Supporting Variants
SamplesRW_0180
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, 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)essv7025680
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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