A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585014



Internal ID6625333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1696366..1742370hg38UCSC Ensembl
chr1:1627805..1673809hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3846005
hg1946005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2e214
Supporting Variantsessv9841267, essv9841329, essv9841210, essv9841246, essv9841244, essv9841283, essv9841367, essv9841351, essv9841331, essv9841261, essv9841252, essv9841350, essv9841352, essv9841298, essv9841294, essv9841224, essv9841373, essv9841313, essv9841276, essv9841356, essv9841271, essv9841269, essv9841256, essv9841328, essv9841262, essv9841242, essv9841326, essv9841265, essv9841198, essv9841317, essv9841310, essv9841377, essv9841346, essv9841226, essv9841353, essv9841223, essv9841255, essv9841216, essv9841368, essv9841295, essv9841337, essv9841275, essv9841381, essv9841297, essv9841274, essv9841281, essv9841305, essv9841208, essv9841369, essv9841336, essv9841318, essv9841383, essv9841324, essv9841195, essv9841249, essv9841322, essv9841199, essv9841258, essv9841239, essv9841193, essv9841303, essv9841241, essv9841254, essv9841285, essv9841327, essv9841237, essv9841220, essv9841320, essv9841301, essv9841312, essv9841207, essv9841191, essv9841272, essv9841360, essv9841288, essv9841332, essv9841211, essv9841379, essv9841200, essv9841338, essv9841296, essv9841194, essv9841230, essv9841378, essv9841370, essv9841358, essv9841289, essv9841189, essv9841340, essv9841217, essv9841316, essv9841270, essv9841314, essv9841209, essv9841366, essv9841302, essv9841251, essv9841308, essv9841290, essv9841248, essv9841228, essv9841363, essv9841341, essv9841311, essv9841300, essv9841192, essv9841359, essv9841280, essv9841309, essv9841372, essv9841357, essv9841342, essv9841333, essv9841330, essv9841279, essv9841339, essv9841202, essv9841245, essv9841235, essv9841348, essv9841238, essv9841292, essv9841225, essv9841376, essv9841213, essv9841364, essv9841384, essv9841315, essv9841243, essv9841277, essv9841278, essv9841206, essv9841347, essv9841321, essv9841365, essv9841306, essv9841284, essv9841205, essv9841291, essv9841247, essv9841268, essv9841231, essv9841361, essv9841371, essv9841355, essv9841334, essv9841323, essv9841197, essv9841214, essv9841204, essv9841264, essv9841227, essv9841215, essv9841299, essv9841201, essv9841234, essv9841263, essv9841259, essv9841286, essv9841273, essv9841257, essv9841374, essv9841282, essv9841212, essv9841233, essv9841380, essv9841196, essv9841307, essv9841304, essv9841266, essv9841362, essv9841345, essv9841260, essv9841293, essv9841385, essv9841375, essv9841344, essv9841335, essv9841222, essv9841253, essv9841190, essv9841221, essv9841218, essv9841382, essv9841325, essv9841236, essv9841354, essv9841240, essv9841349, essv9841203, essv9841287, essv9841343, essv9841250, essv9841232, essv9841229, essv9841319, essv9841219
SamplesHG01441, HG03800, NA21097, HG00121, NA20877, NA18647, HG03052, NA18565, HG04229, HG02026, HG02433, NA12843, HG04211, HG01188, HG01374, HG01066, NA20512, NA12751, HG01531, HG03455, HG00452, NA19777, NA18596, NA18504, NA19443, NA12750, HG01500, NA19792, NA21135, NA18940, HG03099, HG03757, HG01702, HG01064, HG01676, HG01277, HG03976, NA18635, HG03765, HG03485, HG03370, HG00610, HG03246, HG01354, NA12762, HG04131, HG03224, HG01840, NA19384, HG01393, HG01242, NA20539, HG03803, NA20518, HG02490, NA21109, HG01170, NA20896, HG01757, NA20340, HG01281, NA19207, HG01308, HG03696, HG03352, HG02073, HG00637, HG01709, HG00178, HG00253, HG00365, NA19200, NA18638, NA20753, HG02134, HG01603, HG01524, NA18645, HG01784, HG01139, NA20892, NA18538, HG01501, NA19070, HG01122, NA18934, HG00596, NA20505, NA12003, HG01790, HG02057, HG04195, HG04107, NA19391, NA19717, NA19081, HG03945, NA12718, HG02728, HG02165, NA18976, HG01852, HG03781, HG02976, HG01889, NA21116, NA20876, HG03823, HG03967, NA19654, HG00284, HG00250, HG03858, HG00531, HG00479, NA20581, HG00331, HG02309, HG01182, NA06989, HG01593, HG04063, HG03745, HG03634, HG02601, NA12144, HG01403, HG03752, HG01936, HG04176, HG02330, NA18632, HG00155, NA19309, HG02282, HG04227, HG01190, HG00336, HG04026, HG02501, NA20815, HG03899, HG03692, HG01551, HG03117, NA20804, HG02837, HG01396, NA19144, NA20362, HG01375, NA20902, HG04099, NA20544, HG01798, NA20803, NA21094, HG03681, HG02558, HG03103, NA19328, HG02700, HG02128, NA18631, HG04015, HG00259, NA21088, NA20847, HG03646, HG01912, NA21090, HG03097, NA20849, NA21102, HG00656, HG03279, HG02938, HG02053, HG03258, HG03351, HG00310, HG02239, NA18552, HG03470, HG01431, NA19430, NA18957, HG03856, HG01111, NA12006, HG03198, HG01191, NA19346, HG00362, HG02060, HG00581, NA18620
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585014
Frequency
Sample Size2504
Observed Gain0
Observed Loss197
Observed Complex0
Frequencyn/a


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