A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665394



Internal ID9584813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78791921..78792013hg38UCSC Ensembl
chr15:79084263..79084355hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5953506, essv6045036, essv6414810, essv6096765, essv5876088, essv5516229, essv5650589, essv6543893, essv5533637, essv6202817, essv5955980, essv5440007, essv6169187, essv5505093, essv5520696, essv5444439, essv6071668, essv6287085, essv5944654, essv6258596, essv5739886, essv6266009, essv6298316, essv6102958, essv5895041, essv5595090, essv6039094, essv5948698, essv6362264, essv6530039, essv5653667, essv6539482, essv6137022, essv6439380, essv5916366, essv6251542, essv5815920, essv6323634, essv6242400, essv5822354, essv5477206, essv5833288, essv5398397, essv5878364, essv5547856, essv6479604, essv5710622, essv5890754, essv5618725, essv6441886, essv6114344, essv5427787, essv6042534, essv6139986, essv6225961, essv6401119, essv5678499, essv5874761, essv6371842, essv5411484, essv6331100, essv5620960, essv5644993, essv6096387
SamplesHG00323, NA12043, NA12489, NA12249, HG00318, NA07347, NA12750, HG00257, HG00344, HG01519, NA18612, HG00186, NA18526, HG00310, NA11931, HG01365, HG01174, NA18573, NA07051, NA18557, HG01171, HG00479, HG00256, NA12004, HG00337, HG00140, HG00259, NA12761, HG00338, NA18547, HG00125, NA11831, NA12829, NA11894, NA18916, HG00254, NA12751, NA12006, NA19395, NA12892, NA18486, NA06986, HG00260, HG00672, HG00232, HG01069, NA12891, NA10851, NA18582, NA18552, NA19403, NA12156, NA12878, NA11830, NA11992, NA11993, NA19399, NA11829, HG00324, NA12717, NA19381, HG00345, HG00271, NA07000
Known GenesADAMTS7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665394
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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