A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025697



Internal ID9984874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42795277..43139226hg38UCSC Ensembl
Innerchr19:43299429..43643378hg19UCSC Ensembl
Innerchr19:47991269..48335218hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38343950
hg19343950
hg18343950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760524
Supporting Variants
SamplesRW_0002
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)essv7025697
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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