A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657589



Internal ID9923694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137440164..137442220hg38UCSC Ensembl
Outerchr9:137439793..137442640hg38UCSC Ensembl
Innerchr9:140334616..140336672hg19UCSC Ensembl
Outerchr9:140334245..140337092hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5980547, essv6415468, essv6307610, essv5469975, essv6193297, essv5955211, essv6258920, essv5787733, essv6350328, essv5849545, essv6456972, essv6243591, essv5567659, essv6155318, essv6046002, essv6540276, essv5549804, essv5681355, essv5605052, essv5405206, essv5733759, essv6252612, essv5995925, essv5486985, essv6101586, essv5454645, essv6474758, essv5876972, essv6550181, essv5880606, essv5715428, essv5889247, essv6183127, essv5511831, essv6383087, essv6191525, essv6115977, essv6096259, essv6281498, essv6206059, essv6171107, essv5504172, essv5979016, essv5933260, essv5808000, essv5574557, essv5612421, essv6168824, essv5836397, essv5718383, essv6541382, essv6477280, essv5619893, essv5841350, essv5581028, essv5681822, essv6441291, essv6138419, essv5737332, essv5575447, essv6418214, essv6078479, essv6179332, essv5519209, essv5793587, essv5490912, essv6523614, essv6509089, essv6431448, essv6547531, essv6227476, essv6089024, essv5627401, essv5826227, essv6584797, essv6410555, essv6115405, essv6521791, essv6386344, essv5409387, essv6519824, essv6272913, essv5412394, essv5984687, essv5479805, essv6571731, essv5487047, essv6491231, essv6352385, essv6370824, essv6273827, essv5732792, essv5633023, essv5609739, essv6235921, essv5863665, essv5557020, essv5522832, essv5542415, essv5918378, essv5924651, essv6020235, essv6206138, essv5427668, essv6523184, essv6197837, essv6163308, essv6110670, essv6248048, essv6416342, essv5511871, essv6040411, essv5534575, essv6357489, essv6198845, essv5605363, essv5634818, essv5748109, essv5648948, essv6493440, essv5621435, essv5880586, essv6408770, essv6399817, essv5947685, essv6346936, essv5640202, essv6573067, essv6085114, essv6580212, essv5944864, essv6224854, essv5956255, essv5477884, essv5772515, essv5872870, essv5941733, essv5428778, essv5795587, essv5732208, essv5493460, essv6142981, essv5637484, essv5791329, essv5911291, essv6400851, essv6460261, essv6296408, essv5696296, essv6582793, essv6242954, essv6436269, essv6337247, essv6472530, essv6310268, essv6084282, essv6210169, essv6410785, essv5631265, essv5507070, essv5759426, essv6399209, essv6309926, essv5485081, essv6245953, essv5979615, essv5845256, essv5782218, essv6456202, essv5745682, essv6083370
SamplesHG01060, HG00189, HG01441, HG01173, HG01098, HG01356, HG01462, HG00361, HG01359, HG01052, HG00187, HG01079, HG01188, HG01389, HG01374, HG01066, HG00315, HG00640, HG00367, HG00318, HG00181, HG01465, HG01456, HG00737, HG00179, HG00177, HG01461, HG01051, HG01140, HG00337, HG00327, HG00271, HG00641, HG01350, HG01366, HG01070, HG00272, HG01351, HG01488, HG01167, HG00173, HG01168, HG00330, HG01492, HG00736, HG00346, HG01354, HG01083, HG00369, HG01365, HG00334, HG00185, HG00311, HG01134, HG00281, HG00277, HG01455, HG01069, HG01080, HG01067, HG00335, HG01170, HG01495, HG00325, HG01072, HG01176, HG01440, HG00309, HG00182, HG01198, HG00338, HG01048, HG00326, HG00178, HG00323, HG01550, HG01124, HG01353, HG00313, HG01183, HG01136, HG00188, HG00731, HG01360, HG00268, HG00183, HG00176, HG01187, HG01171, HG00282, HG01384, HG00328, HG00190, HG00732, HG01095, HG00368, HG00320, HG00344, HG00275, HG01149, HG00740, HG01390, HG01047, HG01102, HG00324, HG00284, HG01073, HG00273, HG00373, HG01197, HG00331, HG01383, HG01182, HG01101, HG00321, HG00276, HG01107, HG01204, HG01075, HG01148, HG01190, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG01551, HG01253, HG00734, HG00638, HG00278, HG01357, HG01174, HG01375, HG01494, HG01113, HG01137, HG00319, HG01108, HG01489, HG01342, HG00339, HG00269, HG01491, HG00312, HG00329, HG00342, HG00267, HG01254, HG01055, HG00310, HG00186, HG00280, HG00343, HG01251, HG00377, HG00372, HG00274, HG01377, HG01378, HG01082, HG01125, HG00171, HG00345, HG01097, HG00554, HG01191, HG00180, HG01437, HG01061
Known GenesENTPD8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657589
Frequency
Sample Size1151
Observed Gain0
Observed Loss171
Observed Complex0
Frequencyn/a


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