A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760528



Internal ID10376836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12395450..12438841hg38UCSC Ensembl
Innerchr19:12506264..12549655hg19UCSC Ensembl
Innerchr19:12367264..12410655hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3843392
hg1943392
hg1843392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025295, essv7025293, essv7025294, essv7025296, essv7025291, essv7025292
SamplesRW_0174, RW_0546, RW_0530, RW_0145, RW_0013, RW_0665
Known GenesZNF443, ZNF799
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)esv2760528
Frequency
Sample Size1109
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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