A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003719



Internal ID10005173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54226360..54237443hg38UCSC Ensembl
Innerchr19:54730233..54741319hg19UCSC Ensembl
Innerchr19:59422045..59433131hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3811084
hg1911087
hg1811087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763032
Supporting Variants
SamplesSW_0017
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)essv7003719
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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