A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998615



Internal ID10354439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47996568..48039363hg38UCSC Ensembl
Innerchr14:48465771..48508566hg19UCSC Ensembl
Innerchr14:47535521..47578316hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3842796
hg1942796
hg1842796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761836
Supporting Variants
SamplesSW_0172
Known Genes
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)essv6998615
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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