A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15004670



Internal ID2568676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48607683..48777789hg38UCSC Ensembl
Innerchr14:48607734..48777738hg38UCSC Ensembl
Outerchr14:48607632..48777840hg38UCSC Ensembl
chr14:49076886..49246992hg19UCSC Ensembl
Innerchr14:49076937..49246941hg19UCSC Ensembl
Outerchr14:49076835..49247043hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38170107
hg19170107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634440
Supporting Variants
SamplesHG02278
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15004670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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