A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607098



Internal ID6994033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147944420..147958634hg38UCSC Ensembl
chr5:147323983..147338197hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814215
hg1914215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12092508, essv12092501, essv12092502, essv12092507, essv12092497, essv12092513, essv12092512, essv12092503, essv12092494, essv12092504, essv12092510, essv12092506, essv12092495, essv12092500, essv12092511, essv12092505, essv12092499, essv12092496, essv12092498, essv12092509
SamplesNA18861, NA19399, NA19314, HG02756, HG03105, NA19904, NA19384, HG02703, HG02634, HG02420, HG02582, HG03159, HG02508, HG02757, HG03301, NA19320, NA19390, NA19360, NA19129, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607098
Frequency
Sample Size2504
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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