A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677297



Internal ID9596716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8810045..8811944hg38UCSC Ensembl
chr17:8713363..8715262hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5748734, essv6126786, essv5976777, essv5827316, essv6226079, essv5605906, essv6255476, essv5461845, essv5569428, essv5939957, essv5829405, essv5881052, essv5991854, essv6480815, essv6539900, essv6128407, essv6011803, essv6256077, essv5694636, essv6296033, essv6172119, essv5506721, essv6015141, essv5852204, essv5831784, essv6387643, essv5955030, essv6186588, essv5556435, essv6112458, essv5471057, essv5874785, essv6432029, essv5667780, essv5774350, essv6433637, essv6386220, essv6060910, essv5518569, essv5417569, essv5452197, essv5789600, essv5684749, essv6153414, essv6208869, essv6330796, essv6038449, essv6509472, essv6062431, essv6008051, essv6015061, essv5426725, essv6273296, essv6075913, essv6255228, essv5767223, essv6341366, essv6587094, essv5654314, essv6154880, essv6086000, essv6155837, essv5961955, essv5665943, essv5610112, essv6017957, essv5717034, essv6088856, essv6083779, essv6521672, essv5542311, essv5971243, essv6118079, essv6512565, essv6576394, essv5540363, essv6399876, essv6574524, essv6262416, essv5566692, essv5703353, essv5531446, essv5588646, essv6290418, essv5480702, essv6119346, essv6558236, essv5520673, essv5574712, essv5858698, essv6352447, essv6424111, essv6447801, essv5541422, essv5983450, essv6224145, essv6022742, essv5868857, essv6348741, essv5859705, essv6137032, essv5473777, essv6380092, essv6031987, essv6534760, essv5809716, essv5529577, essv6218691, essv5761223, essv5439336, essv6281217, essv6478071, essv6359118, essv6223285, essv5517866, essv5937661, essv6078422, essv6469547, essv6455207, essv5627013, essv5967277, essv5626209, essv6191681, essv5718957, essv5924571, essv5640512, essv5843024, essv5968678, essv6021405, essv5531997, essv5923897, essv5929521, essv5982576, essv6179140, essv6401628, essv5782985, essv5770560, essv5814086, essv5497565, essv5438888, essv5712498, essv5815419, essv6122016, essv5423131, essv6310280, essv5653711, essv6575460, essv5551200, essv6275446, essv5897794, essv5713347, essv6376450, essv5673023, essv6230452, essv5632482, essv6228648, essv6320986, essv6242034, essv5944933, essv5874422, essv6149406, essv6093893, essv5851876, essv6205057
SamplesHG00626, HG00542, HG01173, NA19700, NA19058, HG00143, HG01462, HG00608, NA18621, HG00249, HG00361, NA19066, HG00559, HG01188, HG01066, NA18999, HG00640, HG00699, NA18545, NA19057, NA18596, HG00566, NA19684, NA18530, HG00449, HG01461, HG00654, NA19920, NA19067, NA18602, HG01140, NA18627, HG00663, HG00641, NA18944, NA18550, HG00589, NA18595, HG00689, NA19723, NA18982, NA18635, NA18567, NA19916, NA18558, HG00634, HG00610, NA18574, NA19313, NA19088, HG00270, NA19681, NA19384, NA19079, HG01080, NA20518, HG00683, NA19719, NA18560, HG00534, NA19235, HG00422, NA18986, NA19087, NA19002, HG00427, NA19725, NA18557, NA18985, HG00530, HG00464, HG00260, NA19007, NA18614, NA18544, HG00560, NA18613, HG00629, NA19657, HG00183, HG00176, NA19082, HG01171, NA19707, NA19070, NA20787, NA19403, HG00428, NA19462, HG00577, HG00475, HG00436, HG00533, NA18637, HG00500, NA18572, NA18534, HG00692, HG00635, HG01073, HG00651, NA19000, NA19449, NA19084, HG00690, HG00404, HG00531, NA20581, NA18532, HG00525, NA19059, NA19009, NA18963, NA19682, HG00463, NA18536, NA18570, NA18634, NA18576, NA18608, HG00476, NA19652, NA19440, NA18543, HG00625, NA19473, NA18628, NA18950, HG00580, HG00375, HG00357, NA18941, NA19010, HG00473, HG00418, NA19085, HG00269, NA19078, HG00672, HG00614, HG00513, HG00578, NA19248, NA19438, NA19472, HG00421, HG00656, NA19468, HG00123, NA19102, HG00698, NA19726, NA19080, NA19780, NA19900, HG00595, NA18989, NA19312, NA18623, NA18612, NA19429, NA19431, NA18577, NA18620
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677297
Frequency
Sample Size1151
Observed Gain0
Observed Loss164
Observed Complex0
Frequencyn/a


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