A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822360



Internal ID4978548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83892485..84089073hg38UCSC Ensembl
chr13:84466620..84663208hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38196589
hg19196589
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632929
Supporting Variants
SamplesNA12889
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822360
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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