A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669482



Internal ID9935587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133516230..133516684hg38UCSC Ensembl
chr3:133235074..133235528hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6547051, essv5408498, essv6348588, essv5634523, essv5925564, essv6071263, essv5554789, essv5622530, essv6287895, essv6373153, essv6103115, essv5829020, essv5756027, essv5685994, essv6255913, essv6416289, essv5662417, essv5506700, essv6514547, essv5522893, essv6307022, essv6063486, essv5524600, essv5442340, essv5426978, essv5576560, essv5949619, essv6406072, essv6357637, essv6104867, essv6005460
SamplesNA19700, NA18603, NA19355, NA19819, NA19190, NA12155, NA19381, NA19916, HG00736, NA18916, NA07347, HG00158, NA19917, NA18520, NA19239, NA18638, NA19210, NA12489, NA19707, NA19236, NA18579, NA18572, NA12249, NA19375, NA18542, NA11881, NA19470, NA19398, NA19726, NA18522, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669482
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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