A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668471



Internal ID2901558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13572971..13573619hg38UCSC Ensembl
chr12:13725905..13726553hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5801377, essv6445441, essv5958813, essv5520741, essv5699832, essv5723021, essv6252044, essv5653701, essv6021588, essv6556692, essv5876406, essv5483738, essv6571136, essv5901206, essv6091322, essv5832754, essv5882535, essv5400973, essv6259889, essv5879505, essv6187277, essv6462224, essv6036192, essv5940501, essv6583879, essv5903698, essv5623070, essv5943722, essv5451838, essv6156254, essv6402726, essv6195286, essv6097716, essv5857778, essv5771284, essv6366622, essv6184698, essv6268602, essv6050665, essv5450749, essv6544210, essv5535490, essv5985538, essv6104194, essv5397496, essv5891428, essv6530007, essv6250756, essv5805892, essv5947751, essv5921657, essv6448276, essv5595313, essv6271928, essv5716758, essv5716007, essv5759509, essv5699705, essv5583966, essv6393729, essv6360235, essv5467404, essv5919815, essv5671680, essv6051804, essv5683488, essv5551114, essv6457581, essv6475754, essv6108855, essv5848044, essv6174214, essv5641810, essv6344070, essv6182930, essv5498302, essv6069667, essv5894567, essv6465929, essv5901437, essv5671743, essv5445819, essv6324068, essv5740648, essv5614805, essv5859610, essv5661815, essv6458614, essv5862329, essv6390564, essv6422347, essv5571963, essv6062035, essv5985986, essv6203545, essv6441050, essv5530535, essv5509756, essv6352337, essv6032502, essv6241464, essv6579042, essv6483053, essv6038820, essv5651661, essv5813850, essv5944994, essv5493396, essv6253511, essv6157522, essv5914527, essv6538419, essv6075598, essv6099387, essv5972693, essv5794503, essv6190326, essv6246005, essv5622010, essv6362352, essv6023159, essv5810772, essv6317054, essv5437337, essv6126225, essv5984351, essv6076420, essv6196101, essv6145740, essv6334430, essv6316197, essv5729631, essv5949448, essv6319849, essv6557645, essv6395050, essv5770489
SamplesHG01357, HG01441, NA19207, HG00309, NA18870, NA12043, NA19152, HG01440, NA19712, NA18520, NA20771, NA19819, NA20506, NA19404, NA20516, HG00369, HG00245, NA18501, NA19093, HG00261, NA18511, NA06989, NA10847, NA12340, NA20802, NA20296, NA19430, NA11931, NA18516, NA19359, HG01365, NA20800, HG01082, NA20816, HG01174, HG00173, HG01350, HG00739, HG00122, NA19210, NA19379, NA19834, NA20805, NA12776, HG00187, NA19257, HG00177, NA18488, NA19236, HG00737, NA20322, NA18505, NA12341, NA12287, HG00188, NA19438, NA20340, HG00269, HG01133, HG01254, HG00339, HG00158, HG00179, NA20819, NA12004, HG01378, NA11994, NA19443, HG01048, HG00231, NA20783, HG01495, NA18856, HG00178, NA12829, NA20336, HG00243, NA19663, HG00276, HG01187, HG00357, NA20589, NA19684, NA19190, NA20769, HG00306, NA19725, NA19395, NA07346, HG00108, NA19129, NA19172, NA12892, HG01191, NA20512, NA19102, HG00263, NA18522, NA20334, NA18502, HG00265, NA18504, HG00249, NA20828, HG00153, NA20766, NA19159, NA18579, NA19711, NA19462, HG00151, NA20537, NA12749, NA18867, HG00311, NA12878, NA12003, NA20810, NA19225, NA20812, HG00142, NA19470, NA19130, HG00275, HG00324, NA18853, NA19350, NA18908, NA19381, NA19473, NA20524, NA06994, NA19468, NA19385, HG00271, HG00136, HG01067
Known GenesGRIN2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668471
Frequency
Sample Size1151
Observed Gain0
Observed Loss137
Observed Complex0
Frequencyn/a


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