A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763143



Internal ID10030493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36314803..36356596hg38UCSC Ensembl
Innerchr19:36805705..36847498hg19UCSC Ensembl
Innerchr19:41497545..41539338hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3841794
hg1941794
hg1841794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003384, essv7003386, essv7003385
SamplesSW_0814, SW_1282, SW_0861
Known GenesLINC00665, ZFP14
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)esv2763143
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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