A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638213



Internal ID7024999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22611779..22772436hg38UCSC Ensembl
chr16:22623100..22783757hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38160658
hg19160658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv494e214
Supporting Variantsessv15421360, essv15421383, essv15421372, essv15421362, essv15421366, essv15421352, essv15421367, essv15421379, essv15421378, essv15421365, essv15421363, essv15421357, essv15421371, essv15421374, essv15421373, essv15421359, essv15421358, essv15421370, essv15421364, essv15421350, essv15421369, essv15421354, essv15421380, essv15421356, essv15421353, essv15421349, essv15421351, essv15421376, essv15421382, essv15421348, essv15421355, essv15421361, essv15421368, essv15421347, essv15421381, essv15421377, essv15421375
SamplesHG03121, HG00187, HG00729, HG02600, NA20332, HG01518, HG00337, HG03572, HG01351, NA18571, HG00537, HG00243, HG03826, HG00534, HG00422, HG04238, HG03784, HG03775, HG02102, HG01029, HG02577, HG03740, HG03971, HG04152, HG03940, NA18974, HG01858, HG03899, NA06994, HG02974, HG04015, HG03258, HG00186, HG00280, HG01431, HG02284, HG00180
Known GenesMIR548AA2, MIR548D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638213
Frequency
Sample Size2504
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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