A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15061017



Internal ID5062833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74053535..74063579hg38UCSC Ensembl
Innerchr14:74054035..74063079hg38UCSC Ensembl
Outerchr14:74052535..74064579hg38UCSC Ensembl
chr14:74520238..74530282hg19UCSC Ensembl
Innerchr14:74520738..74529782hg19UCSC Ensembl
Outerchr14:74519238..74531282hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3810045
hg1910045
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634932
Supporting Variants
SamplesHG02600
Known GenesALDH6A1, CCDC176
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15061017
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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