A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617664



Internal ID7004549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74511416..74687817hg38UCSC Ensembl
chr8:75423651..75600052hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38176402
hg19176402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13231404
SamplesHG02399
Known GenesFLJ39080, MIR5681A, MIR5681B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617664
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer