A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659959



Internal ID9926064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52692552..52693917hg38UCSC Ensembl
chr12:53086336..53087701hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6399557, essv6576337, essv5756091, essv6034868, essv6285529, essv6007930, essv6325640, essv6514588, essv5775238, essv6009389, essv6522899, essv6151136, essv5684547, essv6567973, essv5951429, essv5985685, essv6527440, essv6359527, essv5953496, essv5752850, essv6509938, essv6372992, essv6507561, essv5532048, essv5820507, essv6190046, essv6489219, essv5916954, essv6121090, essv6433371, essv6395467, essv6529409, essv5845879, essv5572493, essv5470991, essv5450822, essv6327427, essv6413758, essv6227574, essv6384530, essv5811307, essv5638801, essv6103925, essv5583404, essv5873011, essv6502204, essv6462281, essv6281289, essv5760395, essv6430690, essv5724669, essv6250758, essv6159351, essv6252287, essv6222328, essv6575872, essv5514914, essv5534562, essv5737085, essv5811639, essv6524860, essv6465850, essv6020060, essv6195227, essv5546978, essv6056047, essv6027921, essv6482799
SamplesNA20529, HG01462, HG01052, HG01079, NA12843, HG00257, NA20532, HG00153, NA20517, NA12399, NA12413, NA12341, HG00337, NA07346, HG01250, HG00138, NA19660, NA19379, HG00158, HG01069, HG00335, HG00236, HG00637, NA12828, HG01353, NA12777, HG00149, NA20535, NA12489, HG00268, HG00190, NA20344, HG01102, HG01197, NA11894, NA06989, HG00126, HG01204, NA19685, HG00258, NA20522, NA20801, NA12716, HG00254, HG01190, NA07051, NA20527, NA12763, HG01342, HG00269, HG00125, HG00312, NA19779, NA19474, NA12830, HG00186, NA20807, HG00280, NA20826, NA20528, HG00377, HG00252, NA07056, HG01082, NA12006, NA20754, HG01061, NA20772
Known GenesKRT77
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659959
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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