A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025726



Internal ID9994345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42971344..43134784hg38UCSC Ensembl
Innerchr19:43475496..43638936hg19UCSC Ensembl
Innerchr19:48167336..48330776hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38163441
hg19163441
hg18163441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760524
Supporting Variants
SamplesRW_0233
Known GenesPSG11, PSG2
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)essv7025726
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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