A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674836



Internal ID9594255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59582964..59583989hg38UCSC Ensembl
chr1:60048636..60049661hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6188433, essv5810711, essv6211382, essv5833311, essv5975429, essv5583509, essv5611441, essv5515249, essv5900615, essv6411555, essv5492127, essv5935698, essv5670474, essv6570662, essv6178425, essv6261294, essv5888893, essv5857346, essv6244197, essv5666669, essv6413764, essv6485146, essv5998027, essv5752816, essv5508652, essv5427841, essv6274440, essv5812196, essv5472231, essv5985151, essv5504087, essv5912890, essv6368777, essv6111301, essv6043388, essv6525898, essv6266062, essv5871896, essv5639833, essv6014483, essv5994701, essv5629111, essv6428719, essv5698281, essv5514429, essv6317214, essv6039168, essv5812476, essv5668105, essv6095453, essv6533421, essv6078644, essv5747182, essv6386906, essv5456967, essv5957411, essv6382972, essv5851117, essv6284205, essv5884123, essv6043299, essv6186340, essv6572953, essv5672840, essv6326669, essv5406995, essv6581551, essv6399428, essv5949038, essv5528437, essv5809755, essv6597324, essv6356671, essv6114546, essv5540577, essv6205495, essv6513199, essv5595163, essv5513355, essv6092952, essv6565449, essv5495866, essv5989876, essv6468881, essv5675067, essv6395814, essv6211061, essv6045171, essv5810537, essv5885055, essv6147362, essv6306467, essv6473744, essv6406659, essv6237302, essv6170271, essv5523378, essv5765322, essv6408465, essv6126812, essv5481369, essv5628626, essv6160254, essv5963682, essv5514824, essv5708563, essv6424481, essv5469983, essv5573828, essv5660825, essv6057238, essv6143906, essv6035509, essv5639586, essv6363722, essv5502315, essv6244425, essv6172868, essv5887113, essv6535154, essv5910346, essv6365213, essv6360188, essv6123880, essv5764145, essv6559137, essv6560635, essv5609610, essv6592668, essv5428635, essv5790512, essv5563257, essv5825388, essv5415094, essv6546815, essv5652366, essv6195739, essv5959067, essv5848038, essv6545002, essv5608644, essv6504279, essv5495628, essv6014231, essv6179802, essv6313720, essv6553079, essv6014951, essv6320661, essv6401966, essv6361905, essv5737141, essv6140072, essv5631657, essv6279186, essv5638763, essv5756298, essv5774689, essv5670598, essv5803453, essv5657713, essv6076454, essv5974469, essv5644078, essv5681586, essv5610781, essv5917243, essv6092590, essv6080750, essv5731946, essv5704936, essv5510315, essv6028774, essv5778566, essv6187562, essv6122784, essv6126919, essv6547281, essv6330627, essv5727254
SamplesHG01357, HG00613, NA18621, NA12154, NA12043, NA18861, NA18605, HG00607, HG01440, NA12748, NA18520, NA18595, NA18616, NA19904, HG01250, NA18535, NA18561, NA18523, NA19114, NA18874, HG00369, NA18612, HG00731, HG00464, NA18501, NA18526, HG01098, NA19435, NA18545, NA18603, HG01365, NA19788, NA18953, NA20816, NA12828, HG00428, NA19449, NA18573, NA20786, NA18542, NA18541, HG00190, HG00698, NA19834, HG00334, HG01204, NA19685, HG00404, NA19004, HG01134, NA11893, HG00177, NA19701, NA18965, NA18488, NA19474, HG00319, HG00737, NA19780, NA20322, NA12341, NA19467, NA20521, NA19147, NA18596, NA18949, HG00247, NA18632, HG00635, NA19077, HG01550, NA19914, NA19067, NA20505, NA11919, NA20533, HG01384, NA18934, NA20819, HG00593, NA19390, HG00421, HG00583, NA12004, NA18635, NA19057, NA20811, HG00140, NA18618, HG00689, NA18636, NA19396, NA18856, NA19083, NA19088, NA19397, NA19429, HG00149, HG00150, HG00533, HG00258, NA11843, NA19985, NA11831, NA18916, NA18982, NA19056, NA19457, NA12777, NA18634, NA20589, NA19190, NA19676, NA20769, HG00159, HG01111, NA19786, NA18620, NA12892, HG01516, HG00653, HG00732, NA19384, NA18498, NA18986, NA19102, NA19238, NA19731, NA20540, HG00265, HG00672, HG00232, NA18487, NA18564, NA19347, HG01351, NA19909, HG00740, NA19707, HG00525, HG01060, NA19318, HG00151, NA12891, NA18582, NA18999, NA20525, HG00590, NA12272, HG01095, NA18560, NA19755, HG00608, NA18577, NA20509, NA12878, NA20513, HG00530, NA11992, HG00281, NA19717, NA19655, NA18499, NA19371, NA18610, NA19130, HG00251, HG00625, NA12717, NA18549, HG00442, HG00137, NA18908, NA19473, NA18615, HG00143, HG00336, HG00702, NA19661, NA19466
Known GenesFGGY
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674836
Frequency
Sample Size1151
Observed Gain0
Observed Loss180
Observed Complex0
Frequencyn/a


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