A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025674



Internal ID9994135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42733459..43176117hg38UCSC Ensembl
Innerchr19:43237611..43680269hg19UCSC Ensembl
Innerchr19:47929451..48372109hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38442659
hg19442659
hg18442659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760524
Supporting Variants
SamplesRW_0229
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG5, PSG6, PSG7, PSG8
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)essv7025674
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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