A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670174



Internal ID9589593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73530212..73558318hg38UCSC Ensembl
Outerchr14:73529741..73558738hg38UCSC Ensembl
Innerchr14:73996916..74025022hg19UCSC Ensembl
Outerchr14:73996445..74025442hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828998
hg1928998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401e199
Supporting Variantsessv5653751, essv6083317, essv5537066, essv6498193, essv6428487, essv6488587, essv5437884, essv5964526, essv6164994, essv5488365, essv5731219, essv5842609, essv6441527, essv5514509, essv5807000, essv5711233, essv5552912, essv5535263, essv5747365, essv6060412, essv5733497, essv5938672, essv5596436, essv6011536, essv5820321, essv5885731, essv5684452, essv5665707, essv6120288, essv5822505, essv5846148, essv6026975, essv5896454, essv6444764, essv5947035, essv6080534, essv5882819, essv5853345, essv6413808, essv5919755, essv6010255, essv6102366, essv6596229, essv6107635, essv6037537, essv5816606, essv6433398, essv6564806, essv5771924, essv5519536, essv5950458, essv5561116, essv5509414, essv6131897, essv6320848, essv6157973, essv6335423, essv6330388, essv6126634, essv6295911, essv6128885, essv6479772, essv5753736, essv5750848, essv5854568, essv6199484, essv5869227, essv6515773, essv6171605, essv5923167, essv6363046, essv6046565, essv6178818, essv5490090, essv6235663, essv5997796, essv6161383, essv5956672, essv5763214
SamplesNA19058, HG01521, NA19055, NA18947, NA19066, NA18980, NA18999, NA19057, NA18959, HG01518, HG01522, NA18967, NA19068, NA19076, NA19005, NA18944, NA18940, NA18982, NA18960, NA18942, NA19062, NA19088, NA19054, NA18964, NA18949, NA18977, NA19075, NA18986, NA19087, NA19002, NA18990, NA18985, NA18975, NA18973, NA19007, NA18951, NA19082, NA19070, NA19056, NA19077, NA18956, HG01515, NA19081, NA18976, NA18948, NA18981, NA19064, NA19000, NA19084, NA19059, NA19009, NA18963, NA18945, NA19012, NA18974, NA18953, NA19003, NA18961, NA18952, NA19072, NA18950, NA18941, NA19010, NA19083, NA18943, NA19085, NA19078, NA18971, NA19060, NA19080, NA18983, NA18984, NA18989, NA18968, NA19063, NA19065, NA19074, NA18965, HG01516
Known GenesACOT1, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670174
Frequency
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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