A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2676694

Internal ID9596113
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11865087..11866912hg38UCSC Ensembl
chr18:11865086..11866911hg19UCSC Ensembl
Allele length
AssemblyAllele length
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, essv5946567, essv5643264, essv6590403, essv5430522, essv5594660, essv5988212, essv6453322, essv6171953, essv6292368, essv6021726, essv6328591, essv5693978, essv5468153, essv5630103, essv6098117, essv5782260, essv5423977, essv6002087, essv6539540, essv6332632, essv6349828, essv5535759, essv5917034, essv6340946, essv6532187, essv6387298, essv6062691, essv5875494, essv5771921, essv5880281, essv5643987, essv6491233, essv6215839, essv5795565, essv5587405, essv6231369, essv5654727, essv5636951, essv6549911, essv6241034, essv5743351, essv5777552, essv5894069, essv6512569, essv5647322, essv6555240, essv6511388, essv5815031, essv5634336, essv6481237, 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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2676694
Sample Size1151
Observed Gain0
Observed Loss61
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer