A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617128



Internal ID7004014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48938623..49010248hg38UCSC Ensembl
chr8:49851182..49922807hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3871626
hg1971626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13194953
SamplesHG02658
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617128
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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