A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676694



Internal ID9596113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11865087..11866912hg38UCSC Ensembl
chr18:11865086..11866911hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381826
hg191826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5700795, essv6553049, essv5940559, essv5486281, essv6573041, essv5935996, essv5803219, essv5714730, essv5643264, essv5946567, essv6590403, essv5430522, essv5594660, essv5988212, essv6453322, essv6171953, essv6292368, essv6021726, essv6328591, essv5693978, essv5468153, essv5630103, essv6098117, essv5782260, essv5423977, essv6002087, essv6539540, essv6332632, essv5535759, essv6349828, essv5917034, essv6340946, essv6532187, essv6387298, essv6062691, essv5875494, essv5771921, essv5880281, essv5643987, essv6491233, essv6215839, essv5795565, essv6231369, essv5587405, essv5654727, essv5636951, essv6549911, essv6241034, essv5743351, essv5777552, essv5894069, essv6512569, essv5647322, essv6555240, essv6511388, essv6481237, essv5634336, essv5815031, essv5973436, essv5397834, essv6164153
SamplesNA19137, NA19152, NA19445, NA18520, NA19904, NA19321, NA19819, NA19404, NA19114, HG01342, NA19093, NA18516, NA19453, NA19461, NA18488, NA19236, NA18873, NA19147, HG00115, NA19383, NA19982, NA18934, NA18508, NA19443, NA19900, NA19107, NA19722, NA19908, HG00637, NA19129, NA19189, NA19372, NA19703, NA19375, NA19373, NA19102, NA19238, NA18510, NA19657, NA19098, NA18504, NA18858, NA19332, NA19328, NA19235, NA18907, NA19201, NA18867, NA19394, NA19116, NA19099, NA19446, NA19225, NA19717, NA19240, NA19350, NA18908, NA19468, NA19385, NA18519, NA19466
Known GenesGNAL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676694
Frequency
Sample Size1151
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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