A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672599



Internal ID9592018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49252666..49255657hg38UCSC Ensembl
chr15:49544863..49547854hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6007579, essv5623571, essv6258113, essv6373934, essv5742862, essv5507584, essv6218742, essv6316018, essv5557028, essv5716830, essv5496244, essv5631328, essv6497968, essv6007214, essv5874840, essv5554872, essv6032132, essv5776906, essv6287372, essv5834314, essv6108490, essv6339109, essv5471333, essv6412110, essv5528267, essv5642635, essv5515725, essv6063267, essv5897594, essv5454955, essv6592619, essv6196995, essv6046277, essv6018257, essv6269948, essv5542850, essv6231137, essv5702454, essv5445462, essv6529542, essv6404928, essv6376826, essv5519539, essv6067805, essv6584715, essv6054093, essv5731814, essv6242811, essv5971622, essv5923197, essv5717675, essv6371588, essv5923614, essv5485417, essv5423070, essv6065542, essv5588566, essv5882066, essv6303981, essv5473001, essv5748872, essv5440740, essv6217187, essv6263485, essv5695651, essv6406647, essv6521243, essv6555669, essv5986945, essv5628176, essv6392120, essv6549954, essv5564699, essv6450434, essv5861784, essv5872330, essv5464422, essv6546263, essv6105317, essv6383660, essv6460217, essv5544259, essv6348990, essv6478088, essv6312933, essv5409500, essv5973458, essv6190022, essv6499885, essv5453869, essv6193041, essv5401526, essv6591966, essv5787098, essv5492843, essv6303326, essv6236214, essv5720777, essv5537342, essv6273946, essv6253296, essv5467018, essv5626494, essv5979051, essv5856277, essv6405088, essv5423422, essv6222355, essv5783778, essv6563872, essv6029200, essv5999008, essv5636591, essv6487858, essv5582437, essv6329662, essv6324800, essv5447198, essv6365385, essv5608415, essv5546669, essv5419609, essv6035221, essv6075949, essv6358822, essv6168780, essv6001425, essv6187660, essv5917438, essv6401695, essv5694141, essv6254817, essv6484052, essv5855985, essv6166545, essv5513034, essv6094299, essv5594436, essv6097460, essv6091935, essv5753128, essv5491913, essv6356792, essv6039872, essv5518902, essv5595127, essv6103569, essv5929261, essv5959307, essv5809756, essv5472962, essv5907769, essv5636383, essv5673654, essv6289624, essv5480321, essv6226068, essv5699470, essv6534676, essv6337828, essv6019521, essv6541548, essv6180412, essv6123249, essv6546244, essv6108387, essv6077786, essv6251716, essv6281850, essv6071794, essv5624828, essv6196263, essv6076214, essv6217671, essv5684348, essv5866871, essv6587561, essv5663425, essv5834948, essv6547866, essv5792456, essv5797283, essv5525259, essv5648627, essv6043296, essv6539020, essv6371808, essv6307160, essv5866925, essv6276345, essv6252500, essv6150397, essv5429806, essv6454214, essv6279192, essv6221247, essv5426889, essv6023952, essv6534527, essv6110922
SamplesHG01060, HG00114, NA19701, NA12717, NA19648, NA11830, HG01521, HG01356, NA19703, HG00608, NA12286, HG00249, NA19664, NA11995, HG00361, NA12273, NA19704, NA12843, NA11933, NA20813, NA20802, NA12751, NA19819, NA19393, NA12004, NA12058, HG00179, NA20808, HG00177, HG00150, NA12400, HG01051, HG00261, NA12750, NA12399, NA12341, HG00337, HG00327, HG00641, NA19660, NA19379, HG00272, HG00251, NA19315, NA20589, HG01177, HG01488, HG01167, NA20586, HG00173, NA18916, NA07048, NA19197, NA11918, NA07347, HG00346, NA12283, NA12287, HG00247, HG00270, HG00334, NA19782, HG01110, NA20541, NA19404, HG00281, NA20759, HG00277, NA19720, NA19651, HG00120, HG00335, HG00236, HG00156, NA18868, HG00325, NA19372, NA12044, NA11994, NA12889, HG00309, NA19722, HG00118, NA19725, NA19189, HG01198, NA19239, HG01048, HG01133, NA19456, NA19445, NA19985, NA20755, HG00739, HG00264, NA20753, NA12748, NA11993, HG00260, NA11831, HG00313, HG00133, HG01183, HG01136, HG00154, NA18613, NA19657, HG00266, HG00282, NA12342, NA12003, HG01095, NA20314, NA19663, HG00275, NA12718, HG00551, HG00239, HG01047, NA20525, HG00273, NA11919, HG00250, NA19655, HG00373, HG00331, NA19453, HG00117, NA12827, NA19761, HG00276, NA19682, NA12144, NA20828, HG00141, NA19469, NA12546, NA20534, HG01075, NA19685, NA19375, NA19440, HG00119, NA18909, HG01190, HG00336, HG00285, NA12775, HG00353, NA20815, HG00375, NA19435, NA19240, NA20520, NA07051, NA12046, HG01174, NA20527, HG00237, NA20504, HG01137, HG00256, HG01342, NA12347, NA06986, HG00339, NA18501, HG00259, NA20582, HG00329, HG01055, NA19093, HG00123, HG00310, HG00186, HG00112, HG00280, HG00131, NA19726, NA20758, NA20826, NA20528, NA19900, HG01251, HG00252, HG01377, NA20502, NA19430, NA07056, NA11892, HG01125, HG00171, NA18522, HG01097, HG00554, NA20754, HG00553, NA12776, NA11832, HG01516
Known GenesGALK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672599
Frequency
Sample Size1151
Observed Gain0
Observed Loss200
Observed Complex0
Frequencyn/a


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