A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998869



Internal ID10371129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106113331..106321086hg38UCSC Ensembl
Innerchr14:106538062..106777343hg19UCSC Ensembl
Innerchr14:105609107..105848388hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38207756
hg19239282
hg18239282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761366
Supporting Variants
SamplesSW_1391
Known GenesLINC00226
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)essv6998869
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer