A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003475



Internal ID10021017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42795277..43044862hg38UCSC Ensembl
Innerchr19:43299429..43549014hg19UCSC Ensembl
Innerchr19:47991269..48240854hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38249586
hg19249586
hg18249586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763121
Supporting Variants
SamplesSW_1233
Known GenesLOC100289650, PSG1, PSG10P, PSG11, 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)essv7003475
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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