A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663382



Internal ID9929487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48082503..48084911hg38UCSC Ensembl
chr17:46159865..46162273hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382409
hg192409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5877838, essv5407904, essv5817876, essv5792961, essv6526029, essv6399786, essv6130568, essv5771567, essv5409605, essv5731540, essv6232586, essv5903724, essv5955281, essv5532637, essv5400153, essv5779349, essv6589698, essv5462671, essv5707789, essv5514074, essv6056145, essv6007655, essv6251678, essv5434477, essv6189258
SamplesNA19394, NA20332, NA19374, NA19373, NA19457, NA19130, HG01198, NA20342, NA18933, NA19654, NA19449, NA19440, NA19834, NA19147, NA19712, NA19434, NA19473, NA19334, NA19360, HG01342, NA19818, NA19248, NA19129, NA18511, NA18487
Known GenesCBX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663382
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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