A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14935058



Internal ID2683709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22960444..22961365hg38UCSC Ensembl
Innerchr14:22960503..22961306hg38UCSC Ensembl
Outerchr14:22960385..22961424hg38UCSC Ensembl
chr14:23429653..23430574hg19UCSC Ensembl
Innerchr14:23429712..23430515hg19UCSC Ensembl
Outerchr14:23429594..23430633hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633770
Supporting Variants
SamplesHG02375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14935058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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