A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046240



Internal ID5048056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67662727..67663499hg38UCSC Ensembl
Innerchr14:67662773..67663454hg38UCSC Ensembl
Outerchr14:67662682..67663545hg38UCSC Ensembl
chr14:68129444..68130216hg19UCSC Ensembl
Innerchr14:68129490..68130171hg19UCSC Ensembl
Outerchr14:68129399..68130262hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634806
Supporting Variants
SamplesHG01067
Known GenesVTI1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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