A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998273



Internal ID10023684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18625765..18693043hg38UCSC Ensembl
Innerchr14:19402242..19469520hg19UCSC Ensembl
Innerchr14:18472242..18539520hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3867279
hg1967279
hg1867279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761533
Supporting Variants
SamplesSW_1355
Known GenesLOC642426
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)essv6998273
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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