A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998663



Internal ID10025243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534419..73554275hg38UCSC Ensembl
Innerchr14:74001123..74020979hg19UCSC Ensembl
Innerchr14:73070876..73090732hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3819857
hg1919857
hg1819857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761566
Supporting Variants
SamplesSW_1424
Known GenesACOT1, HEATR4
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)essv6998663
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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