A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003695



Internal ID10011951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54218406..54336316hg38UCSC Ensembl
Innerchr19:54722275..54847587hg19UCSC Ensembl
Innerchr19:59414087..59539399hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38117911
hg19125313
hg18125313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763032
Supporting Variants
SamplesSW_0663
Known GenesLILRA3, LILRA4, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, MIR4752
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)essv7003695
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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