A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667118



Internal ID9586537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94949297..94949615hg38UCSC Ensembl
chr4:95870448..95870766hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5851917, essv6385636, essv6491571, essv5888543, essv6164594, essv6142256, essv5461176, essv5851048, essv5988295, essv5962140, essv6025779, essv6030117, essv6442636, essv5696052, essv6052311, essv5488349, essv6130431, essv5671501, essv6080059, essv6575017, essv6324991, essv5901024, essv6501270, essv6358534, essv5569563, essv5992193, essv6333672, essv6322327, essv6269903, essv6128721, essv6312090, essv5904772, essv6088764, essv5990380, essv5874199, essv6264031, essv6525931, essv5654608, essv5417324, essv6289356, essv5514244, essv6098174, essv6512530, essv5402404, essv6291899, essv5422285, essv5403054, essv5736069, essv5832250, essv6567411, essv6297912, essv6581186, essv6015960, essv6245420, essv6018470, essv5813222, essv6182650, essv5867018, essv5629967, essv6593953, essv5892749, essv5933123, essv5946056, essv5469469, essv6087847, essv6453455, essv6315979, essv6480925, essv6088746, essv6548513, essv6476765, essv6038109, essv5878084, essv5431884, essv6214367, essv5554606, essv6343026, essv6275312, essv6233254, essv5780876, essv5468177, essv5795313, essv5777096, essv5922255, essv6430181, essv6501003, essv6322836, essv5533129, essv6117391, essv5814901, essv5647043, essv5780979, essv6079926, essv5631600, essv5925219, essv6075366, essv6090904, essv5817512, essv5843832, essv6477011, essv6562209, essv5759179, essv5663816, essv6493842, essv5713970, essv5728240, essv6123321, essv6348710, essv6239712, essv6147017, essv6146584, essv5551747, essv6463964, essv5996605, essv5670375, essv6048711, essv6143163, essv5853855, essv6300093, essv6193847, essv5465718, essv6196501, essv5573689, essv6312415, essv5692834, essv5619132, essv5479945, essv5575134, essv5522507, essv6537825, essv5460541, essv5940115, essv6149109, essv6477045, essv5753443, essv6512028, essv5824925, essv5533007, essv6134520, essv6229031, essv5993689, essv5869955, essv5883282, essv6509300, essv5750167, essv5626214, essv6497599, essv5690712, essv6577765, essv6432156, essv5419857, essv5430758, essv6380952, essv5429005, essv5800241, essv5473564, essv6418122, essv6463208, essv5620836, essv5872394, essv6522743, essv6064110, essv5785716, essv6267535, essv5596376, essv6112653, essv6445046, essv5888003, essv6007026, essv6025483, essv6373366, essv6356224, essv5405993, essv6512382, essv5518367, essv5984930, essv5435740, essv5736061, essv6157982, essv5728040, essv6099431, essv6167561, essv6169110, essv5824101, essv5557844, essv5641211, essv6418704, essv5750827, essv6432202, essv6463243, essv6508614, essv6575740, essv6250156, essv6232368, essv6562831, essv5903188, essv6024183, essv5530698, essv6441877, essv5578827, essv6067302, essv5624424, essv6517782, essv6324016, essv5530602, essv6215173, essv6521294, essv6002570, essv5649789, essv6202583, essv6225370, essv5692729, essv6368277, essv5481692, essv5839323, essv6509021, essv6264067, essv6103228, essv5914399, essv5514016, essv6309337, essv6270236, essv5961869, essv6213146, essv6147175, essv5705229, essv5477406, essv6053963, essv5738309, essv6540493, essv5757782, essv6440157, essv5399230, essv5759575, essv5676704, essv5747486, essv5698423, essv6462902, essv6213894, essv5479385, essv6482619, essv6217333, essv5920992, essv5660068, essv5709385, essv6030350, essv5590865, essv6002773, essv6278610, essv6448927, essv6093847, essv6394166, essv6373181, essv5606518, essv5782643, essv5495871, essv6561110, essv6269513, essv6183412, essv6356361, essv6170419, essv6192636, essv5846239, essv6048644, essv5562471, essv5587113, essv6041765, essv6335832, essv5581242, essv5485274, essv5595622, essv5674979, essv6032197, essv6103255, essv5699394, essv5558543, essv5483012, essv6394594, essv5581508, essv5801379, essv6544516, essv6379789, essv6011528, essv6355846, essv6504833, essv6325425, essv5631121, essv5647137, essv6428558, essv5399265, essv5902824, essv6048903, essv6040295, essv5559007, essv5738901, essv5409060, essv5462136, essv5571854, essv6372322, essv5816175, essv6232671, essv5852323, essv5976712, essv6089812, essv5957097, essv5732397, essv5506755, essv5856534, essv5835496, essv6232457, essv5509004
SamplesHG01441, HG00309, NA18870, NA19312, HG00252, HG01440, NA07347, NA19712, NA18520, NA18595, NA20527, HG00619, HG01353, NA12286, NA19819, NA12342, HG00328, HG00705, HG00500, HG01173, HG01083, HG00112, HG00274, HG00186, NA12347, NA19093, HG00131, NA20544, HG00565, NA19311, NA20531, NA11918, NA19469, NA20346, HG01079, NA10847, HG00657, NA19359, HG01051, NA19334, NA19788, NA19331, NA19453, NA20800, NA18953, NA18517, HG01174, HG00326, HG01491, NA20786, NA18542, HG00553, NA12005, HG00139, HG00739, NA19461, NA19210, NA19379, HG00106, NA20539, NA19834, NA20588, HG01188, HG00111, HG01204, HG00187, NA07051, HG00651, HG00280, HG01101, NA19257, HG00146, NA19355, HG00253, NA18505, NA18557, NA20755, HG00156, HG01171, HG00353, NA18868, NA20586, HG00269, HG01133, HG00256, HG00342, HG00321, NA19463, NA19914, HG00158, HG01148, NA19428, NA20505, HG00242, NA11919, NA12763, NA18912, NA19383, NA20533, HG00346, HG01384, HG00250, NA12282, HG01375, NA19390, HG00583, NA12004, NA12383, HG00337, HG01378, NA11994, NA18635, NA19917, NA12155, NA18960, HG00180, HG00259, NA19443, NA18623, HG01048, NA19444, HG01061, NA20530, HG00372, HG01047, NA18636, NA19396, NA18856, NA20127, HG00315, NA07048, NA12761, NA19398, HG00338, NA20541, HG00150, NA20765, HG00125, HG00258, HG01360, NA19985, NA12829, HG01136, NA11995, HG00254, HG00276, HG00284, HG01187, NA12830, NA19457, NA19700, HG00237, HG00343, HG00133, NA12751, NA19190, NA12006, NA19213, HG00306, HG00436, NA19360, NA19377, NA19380, HG01111, HG00124, HG00108, NA12716, NA18620, HG01465, NA19129, NA19172, NA19372, NA18633, NA20291, HG00653, NA19374, NA19703, HG00268, HG01066, NA19375, NA19393, NA19384, HG00629, NA19102, NA18510, NA18502, NA19657, HG00560, NA19002, NA19731, NA18977, HG00501, NA19901, HG00273, HG00282, HG01170, HG00232, HG01069, HG01356, NA19704, HG00249, NA18487, NA18961, HG00277, HG00740, HG00513, NA19720, NA18988, HG00329, HG00512, HG01070, NA19707, NA12283, NA18910, HG00377, HG00236, HG00589, NA18606, NA20525, HG00427, HG01137, HG00590, HG01190, NA19138, NA19376, NA20756, HG01095, NA18599, HG01334, NA20332, NA19394, NA19403, HG00663, NA18560, HG00580, HG00448, NA19818, NA19099, NA20509, HG01390, NA12878, NA18614, NA19452, NA20810, HG00123, NA12842, HG01366, NA18499, HG00422, NA20543, HG01108, HG01251, HG01125, NA11829, HG00251, HG01177, NA20768, HG00275, HG00324, NA18549, NA18574, NA18853, HG00183, HG00473, NA19350, HG00137, HG01102, HG01462, HG01489, NA19381, NA20524, HG01377, HG00336, HG00476, NA20517, HG00272, HG00702, HG00271, HG00278, NA19007, NA19456, NA19779, HG00136, HG01067, HG01354, NA19439, HG00327, HG00361, NA18964, HG01515, HG00313, NA19625, NA11930, NA07037, NA20522, HG01250, HG00344, HG01072, HG01052, HG00100, HG01075, NA18933, NA19404, HG01055, NA18952, NA18612, NA19401, HG00449, NA18570, NA20299, NA19317
Known GenesBMPR1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667118
Frequency
Sample Size1151
Observed Gain0
Observed Loss311
Observed Complex0
Frequencyn/a


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