A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025677



Internal ID10000018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42768594..43252085hg38UCSC Ensembl
Innerchr19:43272746..43756237hg19UCSC Ensembl
Innerchr19:47964586..48448077hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38483492
hg19483492
hg18483492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760524
Supporting Variants
SamplesRW_0543
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, 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)essv7025677
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer