A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665906



Internal ID9932011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82974999..82976965hg38UCSC Ensembl
chr17:80932875..80934841hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381967
hg191967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5988242, essv6131840, essv5850064, essv5644873, essv6452871, essv6372236, essv5943117, essv6428076, essv5705876, essv6183479, essv5938870, essv6100891, essv5415581, essv5911269, essv5812410, essv5415585, essv6039230, essv6554368, essv5748472, essv5725741, essv6004429, essv6458450, essv6455494, essv6202061, essv5785101, essv5774017, essv6079935, essv6466496, essv6460569, essv5697809, essv6084063, essv5621395, essv6560328, essv6592279, essv6173625, essv6005549, essv5490349, essv6558763, essv6119059, essv6101557, essv6057235, essv6044921, essv5956216, essv5864739, essv6395442, essv5675854, essv5426307, essv6391032, essv6317229, essv5788078, essv6014903, essv6082143, essv5621006, essv6302270, essv6406067, essv5855152, essv5677165, essv5453282, essv6125598, essv5551020, essv5702159, essv6494641, essv6018287, essv5776022, essv5567675, essv5654747, essv5661304, essv6421465, essv5514655, essv5641053, essv6576258, essv5950825, essv6374029, essv6230376, essv6466884, essv6457921, essv5756397, essv5545104, essv6429756, essv5802528, essv6123459, essv6270717, essv6486273, essv5771091, essv6523448, essv5481015, essv5761377, essv5742672, essv6060668, essv5783359, essv5591412, essv5893999, essv5781526, essv5494848, essv6453049
SamplesNA20588, NA20761, NA20529, NA20543, NA19703, NA20766, NA19466, NA20783, NA20813, NA20802, NA19819, NA20805, NA20808, NA20517, NA20507, NA20771, NA20806, HG00337, NA20814, NA20537, NA20796, NA20798, NA20589, NA20774, NA20756, NA20795, NA20769, NA20768, NA20540, NA19313, HG00369, NA20541, NA20759, NA20775, NA20812, NA20811, NA19445, NA20757, NA20533, NA20755, NA20753, NA20818, NA20800, NA20505, NA19462, NA20809, NA20810, NA20536, HG00583, NA20506, NA20519, NA20770, HG01047, NA20525, NA19084, NA19453, HG00152, NA20828, NA19469, NA20542, HG01107, NA20526, NA20799, NA20773, NA20522, NA20801, NA19834, NA19434, NA19473, NA20804, NA20520, NA20785, NA20790, NA20792, NA19439, NA19470, NA19311, NA20544, NA19467, NA20803, NA20797, HG00339, NA19818, HG00614, NA20582, NA20786, NA20807, NA20758, NA20503, NA20502, NA20585, NA20754, NA19431, NA20772, NA20509
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665906
Frequency
Sample Size1151
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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