A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13118990



Internal ID4208620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16089605..16164358hg38UCSC Ensembl
chr8:15947114..16021867hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3874754
hg1974754
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616432
Supporting Variants
SamplesHG03788
Known GenesMSR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13118990
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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