A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676782



Internal ID9596201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82326609..82326893hg38UCSC Ensembl
chr7:81955925..81956209hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38285
hg19285
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676782
Frequency
Sample Size1151
Observed Gain0
Observed Loss196
Observed Complex0
Frequencyn/a


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