A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15024833



Internal ID5135390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58038541..58044231hg38UCSC Ensembl
Innerchr14:58038541..58044231hg38UCSC Ensembl
Outerchr14:58038041..58044731hg38UCSC Ensembl
chr14:58505259..58510949hg19UCSC Ensembl
Innerchr14:58505259..58510949hg19UCSC Ensembl
Outerchr14:58504759..58511449hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385691
hg195691
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634619
Supporting Variants
SamplesNA18570
Known GenesC14orf37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15024833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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