A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15092866



Internal ID5094682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88767880..88772434hg38UCSC Ensembl
Innerchr14:88767880..88772434hg38UCSC Ensembl
Outerchr14:88767799..88772552hg38UCSC Ensembl
chr14:89234224..89238778hg19UCSC Ensembl
Innerchr14:89234224..89238778hg19UCSC Ensembl
Outerchr14:89234143..89238896hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg384555
hg194555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635281
Supporting Variants
SamplesNA12843
Known GenesEML5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15092866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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