A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666578



Internal ID9932683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79466534..79497940hg38UCSC Ensembl
Outerchr17:79466163..79498310hg38UCSC Ensembl
Innerchr17:77462616..77494022hg19UCSC Ensembl
Outerchr17:77462245..77494392hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3832148
hg1932148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5433846, essv5889078, essv5544607, essv5790079, essv5910921, essv5677231, essv5456057, essv5540578, essv6360946, essv6041869, essv6331789, essv6222420, essv5978135, essv5567755, essv5916509, essv5890540, essv5874312, essv5760383, essv5564122, essv6195124, essv6013223, essv5800560, essv6344697, essv6314791, essv6097136, essv6563169, essv6532241, essv6126007, essv6066417, essv5408364, essv5747263, essv6118330, essv6142537, essv5909333, essv5429542, essv5519061, essv6431163, essv6301607, essv5549112, essv5535237, essv6370999, essv5638750, essv5960767, essv5871953, essv5612252, essv6364658, essv6025809, essv6177763, essv6190122, essv5449848, essv6515506, essv6170754, essv5522878, essv6189603, essv6532447, essv6543772, essv5884692, essv5702393, essv6160478, essv6206850, essv6580773, essv5461315, essv6457474, essv5934220, essv5930454, essv5398154, essv5925272, essv6584719, essv5786508, essv5765142, essv5427674, essv5839009, essv5881982, essv6213290, essv5929234, essv6416324, essv6231460, essv6014649, essv6220808, essv5426709, essv6518147, essv5604387, essv5397661, essv6387142, essv6490764, essv5604103, essv5824526, essv6084496, essv5784668, essv5773155, essv6188124, essv5442238, essv6535979, essv5773958, essv6319523, essv5788017, essv5760781, essv6331749, essv5763936, essv5768235, essv5647199, essv6068876, essv5792443, essv5926958, essv6016517, essv5869373, essv5655596, essv5809487, essv5774540, essv5594270, essv5977572, essv5958269, essv5515801, essv5547418, essv5758181, essv5560287, essv5443602, essv5408800, essv5861013, essv5561646, essv5707318, essv6455761, essv5487262, essv6043743, essv6510267, essv6327487, essv5561166, essv6261552, essv6347215, essv5835688, essv5814505, essv6157842, essv6215962, essv6477457, essv5500252, essv5844995, essv5974663, essv6336500, essv6205559, essv6075245, essv5805624, essv5793316, essv5559823, essv6192003, essv6031385, essv6056789, essv5541489, essv5745707, essv5476263, essv5946236, essv5746575, essv5743671, essv5839812, essv6083200, essv5757124, essv5456439, essv5948054, essv6570889, essv5908695, essv5548808, essv6048522, essv6489349, essv6454996, essv6013160, essv5614221, essv5449209, essv6549448
SamplesNA19074, HG00437, HG00581, NA18965, HG00593, HG00626, HG00403, HG00650, HG00542, HG00442, NA19058, HG00592, NA19055, HG00536, HG00608, NA18947, HG00671, NA19066, HG00559, HG00524, NA18980, NA18999, HG00699, NA19057, HG00566, NA18959, HG00449, HG00654, NA19067, HG00693, NA18988, HG00663, NA18967, NA19068, NA19076, NA19005, NA18944, NA18940, HG00589, HG00501, HG00702, HG00689, HG00448, NA18982, HG00634, NA18960, NA18942, HG00610, NA19062, NA19088, NA19054, NA18964, HG00537, NA19079, NA18949, HG00590, HG00512, HG00683, NA18977, HG00534, NA19075, HG00422, HG00705, NA18986, NA19087, HG00427, NA18990, NA18985, NA18975, NA18973, HG00530, HG00419, HG00464, NA19007, HG00543, NA18951, HG00560, HG00629, HG00443, NA19082, NA19070, NA19056, HG00596, HG00557, NA19077, HG00428, HG00653, HG00577, NA18956, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, NA18976, NA18948, HG00619, NA18981, HG00708, HG00692, HG00635, NA19064, HG00651, NA19000, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, NA19059, NA19009, HG00704, HG00463, NA18945, NA19012, NA18974, NA18953, NA19003, HG00611, HG00476, NA18961, NA18952, HG00625, HG00565, NA19072, NA18950, HG00580, NA18941, NA19010, HG00473, HG00607, NA18943, HG00662, HG00418, NA19085, HG00620, NA19078, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, NA18971, NA19060, HG00421, NA18987, HG00656, HG00698, NA19080, NA18972, NA18983, HG00595, NA18984, HG00472, NA18989, NA19004, HG00628, NA18968, NA19063, NA19065
Known GenesRBFOX3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666578
Frequency
Sample Size1151
Observed Gain0
Observed Loss167
Observed Complex0
Frequencyn/a


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