A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998763



Internal ID10372886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105688531..105733039hg38UCSC Ensembl
Innerchr14:106154868..106199376hg19UCSC Ensembl
Innerchr14:105225913..105270421hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3844509
hg1944509
hg1844509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761499
Supporting Variants
SamplesSW_1465
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)essv6998763
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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