A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998620



Internal ID10353734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62130899..62164232hg38UCSC Ensembl
Innerchr14:62597617..62630950hg19UCSC Ensembl
Innerchr14:61667370..61700703hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3833334
hg1933334
hg1833334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761839
Supporting Variants
SamplesSW_0141
Known GenesLINC00643, LINC00644
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)essv6998620
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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