A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13116957



Internal ID4846483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14771385..14892311hg38UCSC Ensembl
chr8:14628894..14749820hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38120927
hg19120927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616376
Supporting Variants
SamplesNA12234
Known GenesMIR383, SGCZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13116957
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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