A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667045



Internal ID9586464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77487633..77487677hg38UCSC Ensembl
Outerchr17:77487476..77487830hg38UCSC Ensembl
Innerchr17:75483715..75483759hg19UCSC Ensembl
Outerchr17:75483558..75483912hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv569e199
Supporting Variantsessv5593811, essv5615873, essv5944602, essv5763229, essv6353907, essv5427289, essv6592944, essv6498325, essv6407986, essv6178512, essv5903161, essv5771055, essv6094084, essv6431444, essv5412816, essv5868117, essv6436476, essv5495167, essv5916387, essv6003974, essv6336993, essv6017596, essv6371355, essv6362534, essv6194223, essv6228630, essv6269799, essv6160713, essv5563069, essv6060937, essv5478564, essv5635485, essv6439304, essv6513992, essv6537888, essv6124378, essv6025792, essv5928899, essv5906010, essv6347560, essv6065848, essv5719703, essv5691156, essv6493406, essv5533287, essv6005742, essv5835852, essv6204945, essv6096617, essv6310834, essv6583416, essv6108915, essv5708096, essv6059791, essv5412722, essv6193360, essv5559905, essv6293213, essv5807963, essv6573549, essv5627343, essv5399408, essv6513302, essv5935439, essv6079746, essv6312658, essv6060097, essv6300226, essv6017854, essv5706020, essv5833716, essv5462395, essv6175694, essv6551922, essv6335076, essv5488278, essv5554076, essv6130238, essv5904009, essv5489491, essv6250442, essv5882742, essv6500958, essv6567614, essv5699202, essv6012033, essv5573002, essv5951179, essv5622658, essv5406574, essv5399137, essv5668802, essv5619407, essv5853806, essv5875091, essv6209931, essv6134727, essv5558649, essv5858317, essv5914141, essv5896403, essv6271414, essv5986470, essv5727722, essv5607440, essv5522895, essv6344765, essv5791450, essv5529137, essv6329823, essv6433157, essv5965017, essv5669696, essv5624793, essv5718515, essv6183430, essv6120572, essv6289347, essv6426170, essv6255399, essv5806698, essv6094834, essv6091116, essv5883347, essv5933835, essv5910299, essv5903729, essv5566434, essv6304026, essv6195672, essv5793939, essv5540002, essv5763853, essv5473686, essv6184865, essv6275449, essv6365168, essv5480920, essv6091933, essv5832119, essv6574741, essv6106088, essv5579020, essv5785790, essv5415011, essv6553709, essv5961605, essv5497216, essv5952289, essv5821316, essv5621182, essv5585613, essv5453399, essv6031729, essv6051394, essv5519531, essv6372212, essv5915666, essv6565289, essv5438882, essv6090901, essv5881833, essv5443376, essv5838417, essv5439407, essv5884716, essv5950407, essv5799671, essv6345942, essv6196538, essv5524221, essv5459960, essv6279887, essv6010233
SamplesNA18502, HG01060, NA11830, HG01356, NA20543, NA11829, NA18861, NA18508, NA18565, HG01079, HG00100, NA18507, NA11933, HG01374, HG01066, NA18917, NA12045, HG00640, NA19359, NA18486, HG00699, NA20294, NA19393, NA20332, NA19377, NA18959, HG01518, HG00449, HG00654, NA19190, NA18870, NA18633, HG00261, HG01140, HG00663, NA19374, NA19396, NA19379, NA18940, HG00501, NA19448, HG00702, HG00689, NA18982, NA20756, NA19198, NA20795, HG01492, NA18582, NA19457, NA19138, NA18498, HG01365, NA20287, NA19404, NA12761, NA11930, HG01134, HG00277, HG01069, NA19383, HG00232, NA19372, NA19385, NA19172, NA19317, NA19901, HG00338, NA19239, HG01133, NA19985, NA18973, NA19451, NA18638, NA11993, HG00108, NA11831, HG01353, HG00313, HG00137, HG01136, NA18613, NA12489, HG01171, HG00282, HG01384, NA19403, NA18956, HG00701, HG00657, HG01515, NA20760, NA19391, NA19663, HG00556, HG00583, NA18579, NA20519, NA20126, NA18871, NA18948, NA18534, NA20344, HG00619, HG01390, HG00324, NA18573, HG00273, NA19114, HG00404, NA18499, NA11894, HG00684, NA18856, NA12249, NA12892, HG00613, HG00321, HG00704, NA19225, NA20542, NA18593, HG01107, NA19436, NA18576, NA19375, NA18632, NA20522, NA18542, NA19108, NA18952, NA18543, NA19147, NA19434, NA19749, NA19072, NA19240, HG00473, HG00607, HG00237, NA19428, NA20803, NA19360, NA07037, NA12763, HG00418, NA18610, NA12347, NA19759, NA19376, NA18501, HG00513, NA19223, NA18987, HG01055, NA18636, NA12830, HG00310, NA19102, NA19116, HG00343, NA20528, NA07056, NA18505, HG01082, HG00628, NA20322, NA18624, NA18612, NA18549, NA20754, HG01061, NA18577, NA18620
Known GenesSEPT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667045
Frequency
Sample Size1151
Observed Gain0
Observed Loss174
Observed Complex0
Frequencyn/a


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