A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607769



Internal ID6994700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180286144..180286728hg38UCSC Ensembl
Innerchr5:180286145..180286728hg38UCSC Ensembl
Outerchr5:180286144..180286729hg38UCSC Ensembl
chr5:179713144..179713728hg19UCSC Ensembl
Innerchr5:179713145..179713728hg19UCSC Ensembl
Outerchr5:179713144..179713729hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152328, essv12152226, essv12152223, essv12152408, essv12152405, essv12152334, essv12152314, essv12152302, essv12152388, essv12152376, essv12152387, essv12152368, essv12152320, essv12152275, essv12152247, essv12152384, essv12152232, essv12152285, essv12152235, essv12152309, essv12152333, essv12152331, essv12152255, essv12152374, essv12152290, essv12152271, essv12152359, essv12152256, essv12152365, essv12152385, essv12152351, essv12152249, essv12152386, essv12152295, essv12152313, essv12152307, essv12152251, essv12152308, essv12152325, essv12152344, essv12152348, essv12152277, essv12152244, essv12152273, essv12152406, essv12152377, essv12152392, essv12152253, essv12152269, essv12152282, essv12152378, essv12152294, essv12152352, essv12152241, essv12152336, essv12152404, essv12152322, essv12152304, essv12152299, essv12152287, essv12152327, essv12152357, essv12152358, essv12152345, essv12152300, essv12152367, essv12152335, essv12152326, essv12152366, essv12152225, essv12152230, essv12152272, essv12152239, essv12152264, essv12152399, essv12152289, essv12152356, essv12152338, essv12152343, essv12152227, essv12152330, essv12152317, essv12152397, essv12152347, essv12152346, essv12152324, essv12152222, essv12152340, essv12152315, essv12152318, essv12152284, essv12152342, essv12152316, essv12152296, essv12152234, essv12152311, essv12152260, essv12152337, essv12152379, essv12152298, essv12152403, essv12152278, essv12152236, essv12152229, essv12152355, essv12152262, essv12152238, essv12152266, essv12152288, essv12152252, essv12152339, essv12152380, essv12152396, essv12152263, essv12152259, essv12152250, essv12152258, essv12152237, essv12152354, essv12152286, essv12152242, essv12152389, essv12152381, essv12152364, essv12152306, essv12152265, essv12152293, essv12152373, essv12152398, essv12152390, essv12152407, essv12152372, essv12152362, essv12152231, essv12152312, essv12152283, essv12152292, essv12152319, essv12152246, essv12152391, essv12152329, essv12152281, essv12152361, essv12152395, essv12152375, essv12152274, essv12152270, essv12152350, essv12152291, essv12152280, essv12152279, essv12152224, essv12152297, essv12152254, essv12152323, essv12152303, essv12152261, essv12152267, essv12152402, essv12152305, essv12152363, essv12152401, essv12152394, essv12152310, essv12152257, essv12152321, essv12152245, essv12152383, essv12152360, essv12152276, essv12152268, essv12152382, essv12152369, essv12152349, essv12152393, essv12152240, essv12152332, essv12152341, essv12152400, essv12152243, essv12152233, essv12152371, essv12152228, essv12152248, essv12152370, essv12152353, essv12152301
SamplesHG03690, HG00121, HG02250, HG01918, HG00608, HG00559, NA18565, HG02026, HG01970, NA18641, HG00729, HG00640, HG02017, HG03926, HG02058, HG02382, NA18616, HG00449, HG02154, HG02023, NA18962, HG00663, NA19068, NA18563, NA19076, HG02153, NA18597, HG02069, NA19728, HG00674, NA18635, NA18567, NA20911, HG03485, HG02521, NA18993, NA18558, HG01599, HG00634, NA18618, HG00610, HG01354, NA19088, HG01848, HG01365, HG01982, NA20291, NA19079, HG01398, HG00867, HG00422, NA18986, HG01892, HG03352, HG01932, NA18990, HG01844, NA18985, HG02409, HG00419, NA19789, NA18539, HG02164, NA18638, HG02134, HG01565, NA18614, HG00543, HG01139, NA18951, HG02166, NA18605, NA18613, HG00629, HG02136, HG01847, HG00443, NA19091, HG01171, HG00982, HG01122, NA18525, HG02345, HG01247, HG02152, HG01104, HG00428, HG00653, HG00701, NA18991, HG00475, HG03428, HG00533, HG02390, NA18637, HG02522, NA20875, NA18976, HG01852, HG01796, HG00708, NA18757, HG02364, NA19654, NA18566, HG01392, HG03472, HG03824, HG00956, HG00844, HG00404, HG00684, NA18946, NA19001, HG00613, NA19740, HG02081, NA19009, NA19452, HG00704, NA19225, HG03006, HG02031, HG00463, HG01865, HG02399, HG03653, NA18608, NA20821, HG02330, HG00611, HG03833, HG02089, HG01597, HG01190, HG01980, NA19735, NA18564, HG02049, HG00565, NA18628, HG04239, HG01878, NA18950, HG02355, HG03899, HG01272, HG00623, NA19010, HG01598, HG00473, NA19083, NA18943, HG02137, HG02019, HG00662, NA18610, HG02181, HG00125, HG01395, HG00478, NA19785, HG02401, HG01917, NA18994, NA19770, NA19726, HG02182, HG01872, NA19080, NA19780, HG02186, NA18983, HG01794, HG01377, HG01807, NA18957, HG02425, HG01863, NA18740, NA18612, HG01923, HG01061, HG02060, HG00581, NA18620, HG00593
Known GenesMAPK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607769
Frequency
Sample Size2504
Observed Gain0
Observed Loss187
Observed Complex0
Frequencyn/a


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