A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605942



Internal ID6992879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99488228..99497681hg38UCSC Ensembl
chr5:98823932..98833385hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg389454
hg199454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11992449, essv11992447, essv11992445, essv11992448, essv11992446, essv11992452, essv11992450, essv11992451, essv11992453
SamplesHG01521, HG02419, HG00173, HG02111, NA19175, HG02537, HG03077, HG01516, HG01608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605942
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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