A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633423



Internal ID7020232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:104383932..104392386hg38UCSC Ensembl
chr13:105036282..105044736hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg388455
hg198455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14886417, essv14886416, essv14886409, essv14886407, essv14886420, essv14886415, essv14886410, essv14886405, essv14886406, essv14886414, essv14886422, essv14886411, essv14886418, essv14886412, essv14886421, essv14886413, essv14886408, essv14886419
SamplesHG03126, NA19038, HG02502, NA19189, HG02545, NA19908, HG03088, NA19175, NA19455, HG03081, HG03301, NA19625, HG02557, HG01551, NA19323, NA19213, NA19312, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633423
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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