A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763043



Internal ID10030393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20576271..21107737hg38UCSC Ensembl
Innerchr19:20759077..21290543hg19UCSC Ensembl
Innerchr19:20550917..21082383hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38531467
hg19531467
hg18531467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003270, essv7003268, essv7003269
SamplesSW_1439, SW_1201, SW_1070
Known GenesZNF430, ZNF626, ZNF714, ZNF85
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)esv2763043
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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