A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660313



Internal ID9926418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691448..29693502hg38UCSC Ensembl
chr12:29844381..29846435hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv273e199
Supporting Variantsessv6334435, essv5650690, essv6366524, essv6149638, essv6131625, essv5700217, essv5701604, essv5760846, essv6456983, essv5783874, essv5865457, essv6488731, essv5622602, essv5821054, essv6486009, essv6536853, essv5958714, essv5608930, essv6341862, essv5554146, essv5477405, essv6211983, essv5431119, essv6429849, essv5744412, essv6245192, essv5669089, essv6595413, essv6342782, essv6563581, essv6094684, essv5973637, essv6502858, essv6079061, essv6218154, essv5942085, essv5496286, essv5663633
SamplesNA11995, HG01052, NA18980, HG01188, NA18603, HG00640, HG01051, NA07357, HG01070, HG01168, NA18942, NA18916, HG01083, NA18964, HG01067, HG01170, HG01072, NA18520, HG01198, HG01048, HG01183, HG00731, HG01171, HG01095, NA18948, HG00740, NA18566, HG01102, HG01073, HG01101, NA19099, NA18593, HG01190, NA18952, NA18943, NA06986, NA12749, HG00553
Known GenesTMTC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660313
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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