A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667691



Internal ID9587110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9970040..9970746hg38UCSC Ensembl
Outerchr19:9969469..9971216hg38UCSC Ensembl
Innerchr19:10080716..10081422hg19UCSC Ensembl
Outerchr19:10080145..10081892hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5550876, essv6190552, essv6091091, essv6197451, essv6079976, essv5858576, essv5653830, essv6523915, essv5616559, essv5664904, essv6173472, essv6346901, essv6549020, essv5701961, essv5956390, essv6463537, essv6263287, essv6450873, essv6112540, essv6521756, essv5956887, essv5753087, essv6455756, essv5398478, essv6517209, essv6051405, essv6557328, essv5560134, essv5659276, essv5432379, essv6548207, essv6572384, essv6590860, essv5684018, essv6379647, essv6529224, essv6581715, essv6396123, essv5527308, essv6047901, essv6051078, essv5450386, essv6584965, essv5408126, essv5806945, essv6555067, essv5582241, essv6494603, essv5710821, essv5439725, essv6355576, essv5518016, essv6067204, essv6102133, essv6176628, essv6252913, essv6581547, essv6410729, essv6097079, essv6054466, essv6336820, essv5721381, essv5808586, essv5875990, essv5908200, essv5610476, essv5871206, essv6544724, essv6422982, essv5449185, essv5840231, essv5517746, essv5839108, essv6207502, essv5732692, essv6226075, essv5614721, essv6575658, essv6202337, essv6055090, essv6347537, essv6553721, essv6184800, essv6328613, essv6051606, essv6151668, essv5845347, essv5415979, essv5450868, essv6227629, essv5595317, essv6182965, essv5927189, essv6135836, essv6251637, essv6304002, essv6327109, essv5904304, essv6478438, essv5468497, essv6503242, essv6307991, essv6233379, essv6424659, essv6355980, essv5989427, essv5860756, essv5633122, essv5403004, essv6562845, essv6450545, essv6006803, essv5852233, essv5671439, essv5741881, essv6135228, essv6193813, essv5643117, essv6031209, essv5751977, essv5766253, essv6331393, essv5588720, essv5945730, essv6356496, essv5988586, essv6132211, essv5816995, essv5467410, essv6129386, essv5618050, essv6534860, essv5571988, essv5548376, essv6543952, essv5656373, essv5536311, essv6282174, essv6420126, essv5455192, essv5802269, essv6089826, essv6513815, essv5554482, essv6492217, essv5662312, essv6339821, essv6130117, essv5628756, essv5631728, essv5865256, essv5479739, essv5486557, essv6075745, essv5495513, essv6422314, essv5919003, essv6518053, essv6595083, essv5945206, essv6222957, essv6153996, essv5929330, essv6395384, essv6491489, essv6195396, essv5977537, essv6319615, essv5964659, essv5780553, essv6388708, essv6554798, essv6078658, essv5635486, essv6385092, essv5813923, essv6376664, essv6287049, essv6255626, essv6591458, essv6142875, essv6423156, essv6576151, essv5769542, essv5446607, essv5588500, essv5442727, essv6065895, essv5570191, essv6025777, essv6070444, essv5569822, essv6590331, essv6085349, essv5892123, essv5929538, essv5751559, essv6134904, essv6421467, essv6332260, essv6509016, essv6111302, essv6333379, essv6223586
SamplesHG00323, HG01357, HG00613, HG01441, HG00309, HG00313, HG00537, HG01359, HG00318, HG00536, HG00607, HG01440, HG00619, HG00344, HG00418, HG01072, HG01052, HG01075, HG00328, HG00705, HG01342, HG00500, HG01173, HG01083, HG00274, HG00596, HG00449, HG00310, HG00707, HG01098, HG01389, HG01197, HG00657, HG00614, HG01051, HG01365, HG01492, HG01082, HG01488, HG00428, HG00475, HG00375, HG00542, HG01174, HG00173, HG00326, HG01491, HG01350, HG01182, HG00701, HG00683, HG00698, HG01188, HG00581, HG01204, HG00404, HG00651, HG00280, HG00335, HG00557, HG01101, HG01134, HG01168, HG00366, HG00578, HG00331, HG00319, HG00699, HG01171, HG00353, HG00269, HG00342, HG00266, HG00543, HG01254, HG01107, HG00339, HG00556, HG01148, HG00346, HG01384, HG01140, HG01456, HG00593, HG00472, HG01375, HG00421, HG00583, HG00337, HG01378, HG00638, HG01048, HG01061, HG00372, HG00692, HG01183, HG00689, HG01124, HG00628, HG00315, HG00330, HG00338, HG00533, HG00419, HG01360, HG01136, HG00634, HG00276, HG00284, HG00403, HG01187, HG00343, HG00584, HG00662, HG00373, HG00436, HG00620, HG01097, HG01465, HG00653, HG01191, HG00268, HG00640, HG01066, HG00732, HG00325, HG00629, HG00185, HG00560, HG01073, HG00501, HG00672, HG00273, HG00282, HG01170, HG01069, HG01176, HG01356, HG00478, HG00277, HG01351, HG00740, HG00513, HG00524, HG00329, HG00512, HG00534, HG01070, HG00525, HG01060, HG01383, HG00589, HG01149, HG00427, HG01137, HG00590, HG00595, HG01190, HG01095, HG00650, HG00663, HG00580, HG01112, HG00608, HG00654, HG01390, HG00530, HG00281, HG00285, HG00656, HG01366, HG00422, HG00708, HG01108, HG00693, HG00566, HG01125, HG00320, HG00275, HG00324, HG00625, HG00690, HG00442, HG01374, HG00473, HG01102, HG01462, HG01489, HG00626, HG00684, HG01377, HG00336, HG00476, HG00671, HG00345, HG00702, HG00271, HG00278, HG00531, HG01067, HG01354, HG00327, HG00361, HG01198
Known GenesCOL5A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667691
Frequency
Sample Size1151
Observed Gain0
Observed Loss204
Observed Complex0
Frequencyn/a


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