A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5595940



Internal ID8573343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73540266..73572175hg38UCSC Ensembl
chr14:74006970..74038879hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3831910
hg1931910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672436
Supporting Variants
SamplesNA19676
Known GenesACOT1, ACOT2, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5595940
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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