A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593480



Internal ID6980804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177973784..177983211hg38UCSC Ensembl
Innerchr2:177973784..177983211hg38UCSC Ensembl
Outerchr2:177973284..177983711hg38UCSC Ensembl
chr2:178838511..178847938hg19UCSC Ensembl
Innerchr2:178838511..178847938hg19UCSC Ensembl
Outerchr2:178838011..178848438hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389428
hg199428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10778481, essv10778465, essv10778635, essv10778534, essv10778502, essv10778544, essv10778484, essv10778493, essv10778454, essv10778546, essv10778509, essv10778612, essv10778520, essv10778494, essv10778495, essv10778614, essv10778584, essv10778606, essv10778441, essv10778583, essv10778505, essv10778570, essv10778542, essv10778633, essv10778476, essv10778488, essv10778565, essv10778549, essv10778548, essv10778562, essv10778600, essv10778474, essv10778615, essv10778521, essv10778473, essv10778530, essv10778553, essv10778468, essv10778525, essv10778531, essv10778445, essv10778599, essv10778580, essv10778527, essv10778480, essv10778593, essv10778613, essv10778496, essv10778538, essv10778603, essv10778545, essv10778483, essv10778499, essv10778585, essv10778508, essv10778637, essv10778500, essv10778486, essv10778487, essv10778629, essv10778624, essv10778587, essv10778578, essv10778524, essv10778450, essv10778526, essv10778636, essv10778561, essv10778501, essv10778489, essv10778588, essv10778604, essv10778543, essv10778515, essv10778627, essv10778532, essv10778573, essv10778463, essv10778634, essv10778491, essv10778516, essv10778466, essv10778442, essv10778535, essv10778456, essv10778632, essv10778547, essv10778533, essv10778446, essv10778540, essv10778467, essv10778564, essv10778623, essv10778470, essv10778444, essv10778628, essv10778490, essv10778472, essv10778607, essv10778518, essv10778457, essv10778482, essv10778582, essv10778579, essv10778464, essv10778447, essv10778492, essv10778626, essv10778575, essv10778440, essv10778610, essv10778555, essv10778507, essv10778577, essv10778475, essv10778620, essv10778504, essv10778451, essv10778625, essv10778485, essv10778566, essv10778449, essv10778568, essv10778529, essv10778459, essv10778611, essv10778536, essv10778618, essv10778498, essv10778574, essv10778517, essv10778569, essv10778630, essv10778594, essv10778477, essv10778572, essv10778567, essv10778617, essv10778461, essv10778601, essv10778592, essv10778541, essv10778448, essv10778503, essv10778462, essv10778506, essv10778510, essv10778497, essv10778471, essv10778621, essv10778622, essv10778608, essv10778609, essv10778563, essv10778550, essv10778514, essv10778452, essv10778589, essv10778581, essv10778539, essv10778528, essv10778523, essv10778559, essv10778512, essv10778596, essv10778556, essv10778631, essv10778557, essv10778552, essv10778460, essv10778522, essv10778560, essv10778511, essv10778455, essv10778591, essv10778571, essv10778602, essv10778478, essv10778597, essv10778479, essv10778469, essv10778513, essv10778453, essv10778619, essv10778598, essv10778590, essv10778605, essv10778576, essv10778554, essv10778537, essv10778595, essv10778586, essv10778558, essv10778519, essv10778443, essv10778616, essv10778458, essv10778551
SamplesHG04210, HG03593, HG03857, HG01402, NA21097, NA20529, HG01356, NA20877, NA12286, NA12273, HG00351, HG04222, HG00358, HG04060, HG01537, HG02784, NA21100, HG04211, HG02231, HG00257, NA20512, HG04076, HG03616, HG01686, HG03926, HG04018, HG01518, NA20507, HG02734, NA18633, HG03999, NA07357, HG03950, NA20806, NA20894, HG03782, HG02792, HG03235, HG04100, HG00127, HG04038, HG04022, NA20798, NA19764, HG03808, HG01064, NA19678, HG01997, HG01277, NA20774, NA19723, NA18635, HG01766, NA20905, NA20769, HG01843, HG03874, HG03663, NA11918, NA12283, NA12762, NA12287, HG03917, HG03762, HG03594, NA18611, HG00281, NA20759, HG04183, HG03897, HG01067, HG00120, HG00335, HG03986, HG01628, NA20812, NA19719, NA11932, HG00113, HG02420, HG01525, HG00309, HG00182, HG00338, NA20764, HG03750, NA21114, NA20757, HG03649, HG00323, HG00365, HG01256, HG01524, HG03709, HG00313, HG00290, NA20904, HG03697, NA20892, HG03685, HG00380, HG01200, HG01670, HG03787, HG01384, HG04062, HG01669, NA21119, HG03786, HG03771, HG04035, HG03756, NA20770, HG03781, HG00239, NA20876, HG00324, NA18573, HG00250, HG03824, NA20859, HG02787, NA11894, HG02604, HG03740, HG00157, NA20282, HG00146, NA12144, NA06985, HG01680, NA18536, HG02219, HG01988, NA20542, HG04093, HG03694, HG04200, NA12043, HG03238, HG02660, HG00258, HG04219, HG04188, HG04134, NA11881, NA19834, HG01131, HG00742, HG04239, HG02220, HG03949, HG03692, NA20804, NA12046, NA21123, HG01494, HG00237, NA20902, HG00319, HG04003, HG03019, HG04141, HG00107, HG01086, NA20897, HG01606, HG01770, HG03789, HG03642, NA20868, NA20849, HG00421, HG00288, NA20852, HG03716, HG00186, HG00280, HG03925, HG01781, NA20886, HG01617, NA20502, HG03856, HG02778, HG02020, NA07000, NA21104, HG03955, HG01776, HG00978, NA21091, HG03989, HG01516, NA20511, HG04198, HG03741, HG01608
Known GenesPDE11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593480
Frequency
Sample Size2504
Observed Gain0
Observed Loss198
Observed Complex0
Frequencyn/a


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