A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668927



Internal ID9588346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38807218..38808841hg38UCSC Ensembl
chr17:36963471..36965094hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5916888, essv5510564, essv5723916, essv5499958, essv5665327, essv6219107, essv5634091, essv6179089, essv6069773, essv6052783, essv5647266, essv5738620, essv5575916, essv6124730, essv6428883, essv5445499, essv6580896, essv5831955, essv6357334, essv6226061, essv6567971, essv6574618, essv5535656, essv5538976, essv6546429, essv6146160, essv6445423, essv5699526, essv5752585, essv6552956, essv6165490, essv6445060, essv5879569, essv6336041, essv5470163, essv6556288, essv5856450, essv6478042, essv5537102, essv6229649, essv5661950, essv6102128, essv6465073, essv5949942, essv6123044, essv6078463, essv5404141, essv5443646, essv5426053, essv5409517, essv6424428, essv5974207, essv5459370, essv6417326, essv5558638, essv5893334, essv6406814, essv5703818, essv5652861, essv5905125, essv6463451, essv5579179, essv5473711, essv5484322, essv5829087, essv6283968, essv5697549, essv5955956, essv5828467, essv6381285, essv6567211, essv6249258, essv5969782, essv6496826, essv5420742, essv5514502, essv5972738, essv5533410, essv6008631, essv6021397, essv5436242, essv6161626, essv5940707, essv6111895, essv6510221, essv5961375, essv6527917, essv5426809, essv5627015, essv5931207, essv5464418, essv5640608, essv5538392, essv5847783, essv5961312, essv6410961, essv5570669, essv6008651, essv6543829, essv6115229, essv6174300, essv5818209, essv5848016, essv6287602, essv6116405, essv6109674, essv5927367, essv5540691, essv6448130, essv6282853, essv5812935, essv5532069, essv6440498, essv5585085, essv6101573, essv6247789, essv5529890, essv5990472, essv5633972, essv6128166, essv5771013, essv6087058, essv6545699, essv6415430, essv6380476, essv6436238, essv5554684, essv6459239, essv6421137, essv6440983, essv5832693, essv5687251, essv5423772, essv6428855, essv6107205, essv5474360, essv6335044, essv6498653, essv6166644, essv6164241, essv6050614, essv5680143, essv6458269, essv5955465, essv6306996, essv6040934, essv6189891, essv6002005, essv6164716, essv6195556, essv6385745, essv5506115, essv6146948, essv5948697, essv6436080, essv5409082, essv6096375, essv6307944, essv6447953, essv6468764, essv5493537, essv6127509, essv5658902, essv5729275, essv5893105, essv6068887, essv5852749, essv6434033, essv6239923, essv5478543, essv6230464, essv5619812, essv5550374, essv5968512, essv6060387, essv6311106, essv5751594, essv6484783, essv5979785, essv6104069, essv5900139, essv6103560, essv6090237, essv6249863, essv6432295, essv6500329, essv5504038, essv6320967, essv6464082, essv5526493, essv5849771, essv5674096, essv5975961, essv5821799, essv6220437, essv6133176, essv6208559, essv6200977, essv5776682, essv5550550, essv6596282, essv6050676, essv6498565, essv5918246, essv5674112, essv5734493, essv5747510, essv5437240, essv5697139, essv5906853, essv6265237, essv5624848, essv6277600, essv6391399, essv6464555, essv5831308, essv5471189, essv5653886, essv5504130, essv5569376, essv5571150, essv5743194, essv5830205, essv6544113, essv5723480, essv6568708, essv5750030, essv6365974, essv5732438, essv5873383, essv6309747, essv5656509, essv6435491, essv6479379, essv5922661, essv6374679, essv5621492, essv6298974, essv6042462, essv6571588, essv6177808, essv5575091, essv6535379, essv5589100, essv5663184, essv5925833, essv6490117, essv5585064, essv5642385, essv5909698, essv5509703, essv6284179, essv5478374
SamplesHG01441, NA12827, HG00309, NA19312, NA12718, HG00313, NA19445, HG00734, HG00536, NA07347, NA18616, NA11930, HG00182, HG00418, HG00100, NA19081, NA19819, HG01055, NA18874, HG00171, HG01083, NA20510, HG00274, HG00186, HG00245, NA12347, NA19093, HG00131, NA19783, NA19401, HG00565, HG00736, HG00160, HG00449, NA19060, NA20346, NA19003, HG01098, HG01079, NA12340, NA18603, NA19430, NA20759, HG00463, NA19788, NA19451, NA20816, NA20529, HG00475, NA19010, NA19449, HG00173, HG00326, HG00148, NA20778, NA20786, NA19782, HG00106, NA19834, HG00334, HG00581, NA18963, HG00404, HG01461, NA19651, NA19004, HG00280, HG00335, HG01101, HG01134, HG01168, NA19257, NA19682, HG00366, HG00578, NA19474, HG00737, NA19084, HG00699, NA18557, NA19472, NA20755, NA18950, HG01171, NA18596, NA19438, NA19654, NA20586, HG01133, NA18632, NA20532, HG01107, NA19726, NA19914, NA20761, HG00556, NA19067, NA19982, HG01140, NA19059, NA20819, HG00593, HG01375, HG00583, NA18566, HG00337, HG01378, NA19675, NA12155, NA18563, NA19443, HG00096, NA19722, HG01061, NA18617, NA20807, HG00689, NA18636, HG01124, NA19088, HG00330, NA19398, NA19429, HG00149, NA11933, NA18959, HG00533, HG00419, HG00125, NA12400, NA19075, NA18982, HG00254, NA19663, NA19679, HG00403, HG00357, HG00343, NA12144, NA19684, HG00133, NA18539, NA20773, NA19000, HG00436, NA19725, HG00267, NA19377, HG01465, HG00640, NA19375, NA20760, HG00325, NA20826, HG00260, NA19657, NA19713, NA19731, NA18558, NA18941, HG00672, HG01069, HG01356, NA19704, HG00249, HG00478, HG00116, NA19347, NA20828, HG00103, HG01080, HG01351, NA19332, NA18613, HG01494, NA20582, NA19720, HG00329, NA12283, NA19074, NA18910, HG01383, HG00377, NA19711, NA18985, NA19789, NA19777, NA18543, HG00151, NA12890, HG00427, NA18597, NA12272, HG01095, NA18567, HG01334, NA18538, NA12413, HG00138, NA19116, NA18989, HG00311, HG00448, NA18602, NA19818, NA19446, NA20509, HG01390, NA19452, NA20507, NA20513, NA18548, NA11992, HG00281, HG00285, NA12399, NA19399, HG00656, HG00142, NA20543, NA19198, NA19070, NA19470, NA19315, HG00693, NA11932, HG00566, NA19130, HG00251, NA19346, NA20768, HG00625, HG00690, HG00641, NA18853, HG01374, HG01462, HG01489, NA19079, NA19473, NA20804, HG00336, HG00671, NA19087, NA19468, HG00702, NA19007, HG00136, HG01067, NA18553, NA19439, HG00312, HG00327
Known GenesCWC25
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668927
Frequency
Sample Size1151
Observed Gain0
Observed Loss253
Observed Complex0
Frequencyn/a


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