A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006342



Internal ID6718460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73528236..73588992hg38UCSC Ensembl
Outerchr14:73994940..74055696hg19UCSC Ensembl
Outerchr14:73064693..73125449hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3860757
hg1960757
hg1860757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564315
SamplesHuRef
Known GenesACOT1, ACOT2, HEATR4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006342
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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