A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647191



Internal ID7033932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16554021..16595350hg38UCSC Ensembl
chr22:17034911..17076240hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3841330
hg1941330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv818e214
Supporting Variantsessv16351477, essv16351466, essv16351473, essv16351474, essv16351476, essv16351470, essv16351475, essv16351471, essv16351465, essv16351468, essv16351472, essv16351469, essv16351467, essv16351464
SamplesHG01438, NA12273, NA19651, HG00113, HG02728, HG00740, HG01679, HG01680, HG00099, NA19652, HG03899, HG03733, HG00280, HG02006
Known GenesCCT8L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647191
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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