A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689489



Internal ID13353984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73542595..73546193hg38UCSC Ensembl
Innerchr14:73543595..73545193hg38UCSC Ensembl
Outerchr14:73541595..73547193hg38UCSC Ensembl
chr14:74009299..74012897hg19UCSC Ensembl
Innerchr14:74010299..74011897hg19UCSC Ensembl
Outerchr14:74008299..74013897hg19UCSC Ensembl
chr14:73079052..73082650hg18UCSC Ensembl
Innerchr14:73080052..73081650hg18UCSC Ensembl
Outerchr14:73078052..73083650hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3423432
Supporting Variants
SamplesNA12891
Known GenesACOT1, HEATR4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689489
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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