A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670223



Internal ID9936328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99863766..99865939hg38UCSC Ensembl
chr7:99461389..99463562hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382174
hg192174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6263350, essv6437864, essv5442167, essv6209039, essv5421149, essv5710715, essv5743258, essv5855291, essv6494682, essv5417619, essv5966617, essv5581841, essv6430476, essv6318898, essv6480971, essv6519519, essv5759882, essv6542288, essv5571139, essv6171552, essv6425409, essv5995190, essv6417372, essv6587657, essv5680058, essv6235759, essv5771651, essv5832330, essv5792545, essv6074993, essv6538215, essv5862785, essv5455156, essv5848591, essv6417597, essv5518101, essv6295064, essv6063477, essv5787321, essv6090588, essv6522118, essv5731028, essv6049663, essv5627432, essv5854113, essv6317258, essv6299907, essv5504910, essv6257530, essv5909901, essv6456097, essv6318386, essv5408056, essv5701387, essv6446392, essv5794723, essv5439092, essv5897429, essv6422757, essv5666307, essv5619211, essv6484758, essv6048508, essv5408543, essv5533182, essv6100921, essv6206594, essv6388055, essv6516092, essv6161122, essv5486452, essv5701186, essv6381892, essv5939994, essv5596498, essv5702401, essv6509922, essv6562557, essv6076821, essv5908010, essv6286043, essv5721273, essv5989147, essv6183094, essv5876569, essv5474940, essv5429740, essv5433087, essv5809584, essv6263905, essv5563818, essv5721639, essv5949794, essv5988146, essv5987271, essv6446146, essv6440121, essv6418276, essv5796074, essv6122501, essv5647363, essv6265511, essv5788267, essv6145178, essv6558517, essv5681979, essv5628653, essv5533048, essv5442492, essv5956261
SamplesNA18502, NA19701, NA19700, NA19703, NA18861, NA19399, NA19332, NA19704, NA19092, NA18486, NA19355, NA19377, NA19098, NA18870, NA20356, NA19920, NA19374, HG00641, NA19373, NA19171, NA19379, NA18519, NA18489, NA19448, HG01488, NA18916, NA19457, NA19313, NA20336, NA20291, NA19130, HG01080, NA18868, NA19238, NA19207, NA19172, NA19471, HG01176, NA19901, NA19189, NA18520, HG01133, NA19209, NA20127, NA18867, NA19921, NA19451, NA19200, NA19247, NA19210, NA19437, HG01187, NA18934, NA19403, HG00732, NA19391, NA19327, NA19236, NA18516, NA19982, NA20126, NA20344, NA18907, HG01047, NA19461, NA18499, NA18856, NA18853, NA19099, NA19225, NA18523, NA19160, NA19625, NA18858, HG01107, NA19390, NA18909, NA19321, NA19108, NA19256, NA18517, NA19712, NA19331, NA19240, NA19144, NA19835, NA19467, NA20281, NA19360, NA20341, NA18501, NA19248, NA19438, NA19223, NA20334, NA19468, HG01055, NA19093, NA19102, HG00131, NA19711, NA19213, NA19430, NA18488, NA19312, NA19463, NA18522, HG00554, NA18487, NA19153
Known GenesCYP3A43
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670223
Frequency
Sample Size1151
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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