A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633720



Internal ID7020527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21555534..21560683hg38UCSC Ensembl
Innerchr14:21555553..21560665hg38UCSC Ensembl
Outerchr14:21555516..21560702hg38UCSC Ensembl
chr14:22023665..22028814hg19UCSC Ensembl
Innerchr14:22023684..22028796hg19UCSC Ensembl
Outerchr14:22023647..22028833hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385150
hg195150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14930139, essv14930138
SamplesHG03225, HG01161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633720
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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