A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2667691

Internal ID9587110
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9970040..9970746hg38UCSC Ensembl
Outerchr19:9969469..9971216hg38UCSC Ensembl
Innerchr19:10080716..10081422hg19UCSC Ensembl
Outerchr19:10080145..10081892hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2667691
Sample Size1151
Observed Gain0
Observed Loss204
Observed Complex0

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