A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675618



Internal ID9595037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177396406..177396568hg38UCSC Ensembl
chr5:176823407..176823569hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6425229, essv5958559, essv5634037, essv6167710, essv6304163, essv5566032, essv6331941, essv5678282, essv5682744, essv6084565, essv5700300, essv5977598, essv5706364, essv6358180, essv6008138, essv6280305, essv6090680, essv5615863, essv6461405, essv5682071, essv6424028, essv5935009, essv6484376, essv6388833, essv5834328, essv6148061, essv5549787, essv5774447, essv5865343, essv6317810, essv6111915, essv6094868, essv5836149, essv5932506, essv6260269, essv5580171, essv5962010, essv5939880, essv5624865, essv5777228, essv5765533, essv5925560, essv6403820, essv6559437, essv5575970, essv5406932, essv5763152, essv5548090, essv5941452, essv5959358, essv6292222, essv5706291, essv5625280, essv6386264, essv5561891, essv6553451, essv5664965, essv6330593, essv5551503, essv5463880, essv5841734, essv5982106, essv6179586, essv5434895, essv6428981, essv5900944, essv5506629, essv6144259, essv5851761, essv6246646, essv6083132, essv5605432, essv5679481, essv6503350, essv6578981, essv5485028, essv5653799, essv6229057, essv6421593, essv5514087, essv6579334, essv6341878, essv6403763, essv5844738, essv6399465, essv6269048, essv5790176, essv5486343, essv5668199, essv5497927, essv6087839, essv5555786, essv6124533, essv6478276, essv6494300, essv6179395, essv6461722, essv6571295, essv6136537, essv6064093, essv6240916, essv6593923, essv6320011, essv6288376, essv6072810, essv6029829, essv5696308, essv5617753, essv6554743, essv6461652, essv5590621, essv5992154, essv5666007, essv5863837, essv6055932, essv6593722, essv6104560, essv6014354, essv6493010, essv5802277, essv6210528, essv6437171, essv6161929, essv6567296, essv6136344, essv5930746, essv5932122, essv6201086, essv5681689, essv6412235, essv6215335, essv5428278, essv5975466, essv5860353, essv6324317, essv5524486, essv5971933, essv5495372, essv5467474, essv5768908, essv6132812, essv5905002, essv6411165, essv5792902, essv5490320, essv6593676, essv6313099, essv5737988, essv5749749, essv5623718, essv5565989, essv5488281, essv5939978, essv5464760, essv5845482, essv5659711, essv5458546, essv5998945, essv6046225, essv6224515
SamplesHG00323, HG01357, HG01441, NA18621, HG00309, HG00313, HG00537, HG01518, HG00252, HG00318, NA18605, HG00536, HG00607, NA18595, HG00619, HG01250, NA18534, NA20503, HG00344, HG00418, HG01052, NA18561, NA19081, HG00328, HG01055, NA07056, NA20516, HG01173, NA11920, HG01083, NA18612, HG00274, HG00186, HG01098, HG01492, HG01082, HG00428, HG00475, HG00375, HG00542, NA18608, HG00148, NA18542, HG01188, HG00334, HG00581, HG00187, HG00280, HG00557, HG01101, HG00331, HG00253, NA18596, HG00269, HG01133, HG00342, HG00592, HG00543, HG00154, HG01107, HG01550, HG00158, NA20505, NA11919, NA12763, NA18624, NA19076, NA12282, HG01375, HG00421, NA18566, NA18635, HG00140, NA18622, HG00180, HG00259, NA18563, NA18623, HG01061, NA18636, HG01124, HG00330, NA18638, HG00338, NA18609, NA20765, HG00419, HG00125, HG01113, HG01136, HG00254, NA19663, HG00237, NA19324, NA12006, HG00267, HG00124, NA07346, NA18537, NA18620, NA18572, HG00268, HG01066, NA20760, HG00325, HG00185, HG00263, HG00260, HG01073, NA18977, NA19664, HG00501, HG01069, HG01356, HG01080, HG01351, HG00513, HG00524, HG01494, NA19720, HG00512, HG01070, HG00246, NA12283, NA19789, NA18940, NA10851, NA18582, HG00590, HG01334, HG00650, NA20518, NA12889, HG00580, NA18544, HG00448, HG00608, NA18577, HG01390, HG00530, NA18548, NA11830, HG00281, NA12842, HG00142, NA18571, HG00708, HG01108, NA18610, NA20792, HG00275, NA18532, HG00442, HG01374, HG00473, HG00336, HG00476, HG00278, HG00136, HG01354
Known GenesSLC34A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675618
Frequency
Sample Size1151
Observed Gain0
Observed Loss160
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer