A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13247906



Internal ID6549467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86189102..86323318hg38UCSC Ensembl
chr8:87201331..87335547hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38134217
hg19134217
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617906
Supporting Variants
SamplesNA20752
Known GenesSLC7A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13247906
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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