A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2676782

Internal ID9596201
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82326609..82326893hg38UCSC Ensembl
chr7:81955925..81956209hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5994622, essv5481207, essv6385891, essv5966848, essv5712733, essv6311535, essv6098603, essv6047355, essv5574443, essv5620962, essv6575897, essv6257567, essv5574307, essv6218783, essv6198200, essv6465598, essv6020778, essv5822215, essv5943019, essv6049140, essv6252015, essv5470500, essv6102481, essv5543787, essv5458530, essv6466978, essv5869495, essv5635920, essv6253464, essv6314176, essv6534917, essv5756996, essv6407554, essv5617650, essv6382889, essv5525212, essv6596275, essv5916383, essv5523558, essv6099542, essv5517898, essv6115431, essv5868671, essv6464209, essv6463014, essv5622735, essv6237565, essv6041607, essv5489854, essv5755063, essv6495459, essv6401273, essv5900954, essv6129203, essv5852712, essv6093741, essv6377907, essv5629647, essv6005538, essv5825101, essv5724440, essv6347722, essv6359243, essv5803222, essv5905374, essv5436864, essv5649650, essv5791316, essv5977243, essv6427105, essv6303310, essv6037791, essv5537908, essv5597117, essv5489647, essv5865479, essv6466895, essv6207279, essv5401922, essv6545469, essv6395872, essv5697269, essv6078552, essv5944483, essv5755066, essv6568758, essv5743350, essv5420684, essv5692285, essv6020908, essv5713892, essv5679698, essv6175848, essv6053183, essv5685479, essv5981348, essv5890595, essv6216815, essv6027828, essv5808624, essv5564278, essv5657197, essv6192700, essv5484615, essv5734434, essv6559396, essv6352237, essv5776407, essv6347459, essv5516236, essv6235389, essv6156344, essv5911172, essv5545530, essv5509505, essv5886805, essv5831924, essv5704580, essv5623856, essv5606209, essv5449073, essv5630450, essv5754750, essv6169180, essv6318274, essv6418894, essv5760079, essv5891888, essv5835191, essv5967968, essv6545453, essv6469414, essv5497876, essv5884988, essv6346356, essv5494245, essv5510858, essv5503956, essv6394633, essv5778016, essv5555503, essv6272302, essv5510305, essv6451227, essv6088736, essv6116252, essv6569132, essv5586406, essv6348640, essv6247384, essv6382577, essv6510218, essv5858402, essv6567572, essv5686150, essv5973379, essv6142703, essv6161111, essv5802738, essv6069664, essv5509694, essv6143778, essv6251953, essv6252857, essv6462709, essv5527337, essv5580703, essv5996527, essv6288634, essv6194461, essv5763895, essv5566835, essv6409934, essv5856837, essv5599505, essv6161147, essv5903957, essv5705092, essv6333592, essv6111400, essv5516876, essv6309169, essv6292230, essv5536082, essv6190310, essv5710621, essv6295838, essv6533010, essv5843197, essv5900971, essv5801431, essv5892885, essv6299272, essv5844773, essv6521582, essv6438591
SamplesNA18621, NA12249, HG00318, HG00536, NA07347, NA12748, NA18616, NA07037, NA20527, NA18534, NA20503, HG00344, HG01353, NA18530, NA18535, NA20785, HG01052, NA18561, NA19819, NA20506, NA12342, HG00328, NA18523, NA20516, HG01083, HG00112, HG00245, NA20544, NA18526, NA20535, HG00155, HG00449, NA18570, NA10847, NA12340, HG01389, HG00614, HG01492, NA12828, NA20529, HG01174, NA20342, HG00148, NA20786, HG00698, HG01188, HG01204, NA18963, HG00187, HG01461, HG00335, NA19682, HG00331, NA18965, NA19780, NA18557, NA12044, NA12287, NA19147, NA18626, HG00479, NA20340, HG00269, HG01133, HG00256, HG00244, NA12414, NA19077, HG01254, HG00339, NA19463, NA20585, NA12843, NA20533, HG01140, HG01456, HG00593, NA12282, NA20515, HG00337, NA19675, NA18576, HG00180, NA07357, NA18623, NA20504, HG01048, HG00610, NA20783, NA20801, NA19088, HG00628, NA12273, HG00315, NA18956, NA19398, NA11933, NA20541, NA18609, NA20765, NA19985, NA18637, HG00264, HG01253, NA18593, HG00254, NA19663, NA19679, HG01187, HG00357, HG00343, HG00114, NA12751, NA20769, HG00436, NA19725, HG00159, NA19380, NA19786, NA19080, NA12046, HG00108, HG00640, HG01066, HG00732, NA19384, HG00325, HG00629, NA18968, NA06986, NA18522, HG00260, HG00560, NA20540, NA18977, NA19664, HG00273, HG01356, NA18487, NA18564, HG00116, NA20815, NA18988, HG00329, NA12283, NA18562, HG01383, HG01149, NA18606, NA19235, HG01094, NA12890, NA20537, NA20534, HG01095, HG00443, NA19391, NA19723, NA20276, NA20799, NA06984, HG00138, HG00663, NA12156, NA12889, NA19116, HG00118, NA18544, NA19818, NA20810, NA19063, HG00142, NA18610, NA20758, HG00566, HG01177, NA19346, HG00320, HG00324, NA18549, HG01102, HG01110, HG00336, HG00476, NA20502, HG00345, NA19385, HG00278, NA20519, HG00136, NA18519, NA07000, NA19746, HG00312, HG00361, HG01198
Known GenesCACNA2D1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2676782
Sample Size1151
Observed Gain0
Observed Loss196
Observed Complex0

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