A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025974



Internal ID10343037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54226329..54249734hg38UCSC Ensembl
Innerchr19:54730202..54753592hg19UCSC Ensembl
Innerchr19:59422014..59445404hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823406
hg1923391
hg1823391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760520
Supporting Variants
SamplesRW_0285
Known GenesLILRA6
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)essv7025974
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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