A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673171



Internal ID9939276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32486839..32548345hg38UCSC Ensembl
Outerchr6:32486418..32548765hg38UCSC Ensembl
Innerchr6:32454616..32516122hg19UCSC Ensembl
Outerchr6:32454195..32516542hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3862348
hg1962348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1101e199
Supporting Variantsessv5831220, essv6280319, essv5522795, essv6450446, essv6307343, essv6201271, essv6288549, essv6026989, essv5556385, essv6303118, essv5651763, essv5674411, essv5931904, essv6041705, essv6503925, essv6535836, essv6244912, essv5839202, essv6136206, essv6098728, essv5549768, essv5815757, essv6188799, essv6522243, essv6326658, essv6475007, essv5667722, essv6170132, essv6187510, essv5699761, essv6126553, essv5939975, essv5869769, essv6063101, essv5993300, essv5824066, essv6418949, essv6284419, essv5423476, essv5416818, essv5453588, essv5815962, essv5498873, essv6545297, essv6393644, essv5832978, essv5538985, essv6521927, essv5827518, essv6116602, essv6090330, essv6444137, essv6594083, essv6400719, essv6377884, essv6237512, essv6131771, essv5898081, essv5462581, essv6031712, essv5604532, essv6285358, essv5717271, essv6228791, essv5939026, essv6550923, essv5902608, essv5581053, essv5499919, essv5454043, essv6207217, essv5705782
SamplesNA19058, HG01521, NA19055, NA18980, NA18999, NA19057, HG01518, NA19067, HG01522, NA18988, NA18967, NA19068, NA19076, NA19005, NA18944, NA18940, NA18960, NA18942, NA19062, NA19088, NA19054, NA19079, NA18949, HG01519, NA18977, NA18986, NA19087, NA19002, NA18990, NA18985, NA18975, NA18973, NA19007, NA18951, NA19056, NA19077, HG01515, NA18976, NA18948, NA18981, NA19064, NA19000, NA19084, NA19009, NA18963, NA18945, NA19012, NA18953, NA19003, NA18961, NA18952, NA19072, NA18950, NA18941, NA19010, NA19083, NA18943, NA19085, NA19078, NA18971, NA19060, NA18987, NA19080, NA18983, NA18984, NA18989, NA19004, NA19063, NA19065, NA19074, NA18965, HG01516
Known GenesHLA-DRB5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673171
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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