A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670707



Internal ID9936812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:54565598..54569004hg38UCSC Ensembl
Outerchr14:54565227..54569374hg38UCSC Ensembl
Innerchr14:55032316..55035722hg19UCSC Ensembl
Outerchr14:55031945..55036092hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5642060, essv6366274, essv6587076, essv6298421, essv6043617, essv6107283, essv6218684, essv6108260, essv6036196, essv6499978, essv6492495, essv6120459, essv5572239, essv6538656, essv6250428, essv5991028, essv5409429, essv5605741, essv5436304, essv6191199, essv6286096, essv5875224, essv5495793, essv6506923, essv6353598, essv6219218, essv6456896, essv6552698, essv5990081, essv6153392, essv5838648, essv6566887, essv6402675, essv6187345, essv5467872, essv5517317, essv6451255, essv6153318, essv6288878, essv5835886, essv6497389, essv5616410, essv6006085, essv5970966, essv6346825, essv6470835, essv6332164, essv5726816, essv6299508, essv6387390, essv6365478, essv6450145, essv6021151, essv6547770, essv5957470, essv5941851, essv5748697, essv6450999, essv5454265, essv6359494, essv5725368, essv5761924, essv5633615, essv6146213, essv6173467, essv5897011, essv5795707, essv5688251, essv5759955, essv6251436, essv6532260, essv6586579, essv6246264, essv5866426, essv6240924, essv6031367, essv5996112, essv5820796, essv5701790, essv5585347, essv6156754, essv6172160, essv5626074, essv6241537, essv5516083, essv6571201, essv6349961, essv6022073, essv6480627, essv6453678, essv6223774, essv5725184, essv5580488, essv6547008, essv5981375, essv5596333, essv6371463, essv6412919, essv6514390, essv6087629, essv5515395, essv6039407, essv5664492, essv5801396, essv6542132, essv6488836, essv6293634, essv5409643, essv5960630, essv6019400, essv5637854, essv6271903, essv6196156, essv5873006, essv6225470, essv5936771, essv5756209, essv5666818, essv5928193, essv6405114, essv6589453, essv6357807, essv6250754, essv5671509, essv5882449, essv6262777, essv5838602, essv5501501, essv5725295, essv6021377, essv5979998, essv6092538, essv6375954, essv6070259, essv5402959, essv6091193, essv6070940, essv5421890, essv6305323
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00361, HG00524, HG00315, HG00318, HG00181, HG00699, HG00179, HG00449, HG00654, HG00693, HG00337, HG00327, HG00271, HG00589, HG00272, HG00501, HG00702, HG00689, HG00448, HG00330, HG00634, HG00610, HG00346, HG00270, HG00185, HG00537, HG00590, HG00512, HG00281, HG00277, HG00683, HG00335, HG00325, HG00534, HG00422, HG00705, HG00309, HG00182, HG00427, HG00338, HG00326, HG00178, HG00323, HG00530, HG00419, HG00464, HG00543, HG00313, HG00188, HG00629, HG00443, HG00268, HG00266, HG00176, HG00282, HG00596, HG00557, HG00328, HG00428, HG00653, HG00701, HG00475, HG00368, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, HG00500, HG00275, HG00619, HG00708, HG00692, HG00635, HG00324, HG00284, HG00273, HG00651, HG00690, HG00404, HG00373, HG00531, HG00479, HG00331, HG00684, HG00613, HG00525, HG00321, HG00276, HG00704, HG00463, HG00611, HG00476, HG00336, HG00285, HG00625, HG00353, HG00580, HG00375, HG00278, HG00473, HG00607, HG00319, HG00662, HG00418, HG00620, HG00339, HG00269, HG00707, HG00614, HG00513, HG00478, HG00329, HG00656, HG00342, HG00174, HG00310, HG00186, HG00698, HG00280, HG00343, HG00377, HG00595, HG00472, HG00628, HG00171, HG00345, HG00437, HG00581
Known GenesSAMD4A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670707
Frequency
Sample Size1151
Observed Gain0
Observed Loss139
Observed Complex0
Frequencyn/a


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