A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618700



Internal ID7005582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124737252..124752571hg38UCSC Ensembl
chr8:125749494..125764813hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3815320
hg1915320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13312372, essv13312373, essv13312374, essv13312375
SamplesHG03366, HG03099, HG03136, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618700
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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