A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760511



Internal ID10027874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36354973..36356596hg38UCSC Ensembl
Innerchr19:36845875..36847498hg19UCSC Ensembl
Innerchr19:41537715..41539338hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg381624
hg191624
hg181624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025601, essv7025599
SamplesRW_0139, RW_0271
Known GenesZFP14
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)esv2760511
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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