A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670460



Internal ID2903547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39347667..39348284hg38UCSC Ensembl
chr7:39387266..39387883hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6345710, essv6095439, essv5679126, essv5472229, essv5777586, essv5624125, essv5993377, essv5522298, essv6556552, essv5821933, essv6086900, essv5762637, essv5474822, essv6124614, essv5443631, essv6397093, essv6075280, essv6100091, essv5844268, essv5962555, essv6014107, essv5460596, essv6087777, essv6299324, essv5744439, essv6306615, essv5651513, essv5847150, essv6523788, essv6542491, essv5642094, essv6068539, essv6195896, essv6575032, essv6126028, essv6074981, essv5481994, essv5832339, essv6356348, essv5549698, essv6319851, essv5984510, essv6069804, essv6170579, essv6128003, essv6222896, essv5998518, essv6254717, essv6566181, essv5577051, essv6589839, essv5593263, essv5901364, essv5969005, essv5992463, essv6022349, essv6128574, essv5756085, essv6595271, essv6093279, essv5633388, essv5457578, essv5429767, essv5943640, essv6038117, essv5829644, essv5903874, essv5526435, essv6355310, essv6378022, essv5579067, essv5947213, essv5945193, essv6507346, essv6068977, essv6487151, essv6446513, essv6580124, essv6089898, essv5701629, essv6057463, essv5846713, essv5926265, essv6393857, essv6516863, essv5545362, essv5993171, essv6065797, essv6196441, essv5688274, essv6099479, essv5584626, essv6533130, essv6302787, essv6530830, essv6438051, essv6584439, essv5863366, essv5913592, essv5680121, essv5725674, essv6245144, essv6137835, essv5469510, essv6012949, essv5734668, essv5671699, essv6060866, essv5427678, essv6527786, essv5417577, essv5862441, essv6140132, essv5537036, essv6473815, essv6330967, essv6464181, essv5762983, essv5894612, essv5413847, essv5971096, essv5727685, essv6458058, essv6360474, essv5544202, essv5783727, essv6593524, essv5750654, essv6512819, essv6119256, essv6530115, essv6518816, essv6334768, essv5727446, essv6172470, essv5783313, essv6119748, essv5599567, essv5946154, essv5601673, essv5890446, essv6187820, essv6089948, essv5406826, essv6053638, essv5888818, essv5765840, essv6330933, essv5822524, essv6010362, essv6114992, essv6310412, essv5897615, essv6511423, essv5615952, essv5496643, essv6471246, essv6115595, essv6223305, essv6433388, essv6357521, essv5757314, essv5845248, essv6542415, essv5831662, essv5436041, essv6147946, essv6422501, essv5729024, essv5868971, essv5532758, essv6033294, essv6521382, essv5798852, essv5605094, essv5565283, essv5854524, essv5564586, essv6020439, essv5708301, essv6457407
SamplesHG01357, NA19137, NA11881, NA19207, HG00313, HG01359, HG00318, NA07347, HG00257, NA18520, NA11930, HG00182, NA20527, HG01250, HG01072, HG00127, HG01055, NA18975, NA19114, NA07056, NA20516, HG01173, HG00274, HG00245, NA18501, NA19093, NA20544, NA19401, NA18526, HG00736, NA19311, NA11918, NA19469, HG00261, NA18511, HG01079, HG01389, NA18948, NA19430, NA11931, HG01082, NA20816, NA20342, HG00173, NA20778, HG00139, HG00190, NA19144, HG00122, NA19210, NA12058, NA18507, HG01188, HG00111, NA19685, HG00187, NA19648, NA19678, HG00280, HG01101, HG00146, NA19236, HG00737, NA12044, HG00188, NA19776, HG00353, HG00269, HG01133, HG00266, HG00154, HG01107, HG00321, NA19914, HG00158, NA11919, NA19982, NA18508, NA19054, NA20515, HG00472, HG01375, NA19390, NA19652, NA18566, HG01378, NA19917, NA20811, NA19660, HG00638, NA12155, NA19722, HG01061, HG00372, NA19396, NA20754, NA12273, NA19397, HG00315, NA12761, NA11933, HG00125, HG01136, NA18637, HG00254, HG00343, HG00114, NA12751, NA12006, NA20769, HG01437, NA19153, HG00108, NA19129, NA18572, NA19375, NA20790, HG00185, NA19102, NA18510, NA19119, NA19664, HG00282, HG00249, NA18942, NA19332, HG00740, NA20582, NA19720, HG00329, HG00534, HG01070, NA19707, HG00377, NA19711, NA20813, NA19789, HG00236, NA18999, HG01137, NA20756, HG01095, NA18909, NA19391, HG01334, NA12749, NA06984, NA19431, NA18544, NA20509, NA20507, NA20513, NA20317, NA12003, HG00285, NA18917, NA19160, NA19655, HG01108, HG00367, NA18984, NA20792, NA19130, HG01177, HG01498, HG01374, NA18981, HG01102, HG01462, HG01489, HG00143, HG01110, NA19758, NA20538, HG00271, HG00278, NA20519, NA18519, HG00126, HG01354, HG00312
Known GenesPOU6F2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670460
Frequency
Sample Size1151
Observed Gain0
Observed Loss181
Observed Complex0
Frequencyn/a


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