A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600285



Internal ID6987329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39537534..39538246hg38UCSC Ensembl
Innerchr4:39537539..39538241hg38UCSC Ensembl
Outerchr4:39537529..39538251hg38UCSC Ensembl
chr4:39539154..39539866hg19UCSC Ensembl
Innerchr4:39539159..39539861hg19UCSC Ensembl
Outerchr4:39539149..39539871hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11401325, essv11401356, essv11401309, essv11401375, essv11401284, essv11401256, essv11401295, essv11401369, essv11401285, essv11401236, essv11401328, essv11401374, essv11401313, essv11401365, essv11401339, essv11401268, essv11401364, essv11401305, essv11401291, essv11401302, essv11401322, essv11401253, essv11401362, essv11401255, essv11401316, essv11401270, essv11401264, essv11401239, essv11401368, essv11401361, essv11401352, essv11401301, essv11401331, essv11401279, essv11401324, essv11401259, essv11401336, essv11401286, essv11401326, essv11401338, essv11401347, essv11401330, essv11401273, essv11401282, essv11401342, essv11401346, essv11401308, essv11401353, essv11401267, essv11401373, essv11401294, essv11401257, essv11401350, essv11401310, essv11401351, essv11401320, essv11401252, essv11401306, essv11401288, essv11401260, essv11401332, essv11401275, essv11401300, essv11401274, essv11401247, essv11401298, essv11401250, essv11401377, essv11401292, essv11401245, essv11401319, essv11401290, essv11401304, essv11401363, essv11401241, essv11401289, essv11401333, essv11401269, essv11401246, essv11401366, essv11401281, essv11401312, essv11401276, essv11401265, essv11401307, essv11401263, essv11401277, essv11401357, essv11401235, essv11401367, essv11401303, essv11401293, essv11401329, essv11401283, essv11401242, essv11401371, essv11401358, essv11401240, essv11401278, essv11401261, essv11401244, essv11401344, essv11401372, essv11401243, essv11401379, essv11401272, essv11401262, essv11401238, essv11401378, essv11401349, essv11401296, essv11401237, essv11401370, essv11401341, essv11401299, essv11401280, essv11401335, essv11401348, essv11401318, essv11401321, essv11401334, essv11401248, essv11401343, essv11401251, essv11401323, essv11401345, essv11401340, essv11401271, essv11401337, essv11401249, essv11401254, essv11401287, essv11401360, essv11401354, essv11401315, essv11401314, essv11401311, essv11401359, essv11401297, essv11401355, essv11401258, essv11401376, essv11401327, essv11401317, essv11401266
SamplesHG01985, HG03366, HG04096, HG03484, NA20853, HG01462, HG00351, NA21099, NA18561, HG02337, HG03300, HG02419, HG00457, HG03130, HG01806, NA20321, HG02277, HG03229, HG03895, HG02384, HG03478, NA18969, HG03095, HG03572, HG01500, HG00717, HG03082, HG01571, HG00122, NA18597, NA20861, NA20320, HG02383, NA20756, HG03370, HG00458, HG02301, NA18642, NA19088, HG02054, HG01063, NA19138, HG00369, NA21103, NA18964, HG02111, NA11930, HG02252, HG02512, HG02634, NA19917, HG01849, HG00534, NA21107, HG01525, HG03352, HG01932, HG03380, HG00406, HG03267, NA19445, NA18908, NA19451, NA19027, HG01851, NA18614, NA12760, HG01867, HG00982, HG00380, HG01797, HG02513, NA21119, HG03760, HG04195, HG01515, HG00101, HG00475, HG00368, HG03711, HG02953, HG00500, HG04035, HG01941, HG02497, HG01808, HG01796, HG00551, HG02537, HG00273, HG01414, HG00651, NA21086, HG02577, NA19320, HG03745, HG03991, HG00126, NA21142, NA18634, HG02399, HG01811, HG02813, HG01363, NA12716, NA19390, NA19108, HG04026, HG02088, NA19072, HG01800, HG00136, HG02314, HG03469, HG03127, HG01951, HG03870, HG03304, HG01933, HG01113, HG00116, HG03419, HG02137, NA20888, HG02379, HG03642, HG02238, HG01846, HG02116, HG02013, NA19726, HG02182, HG03538, HG01914, HG03162, NA18957, HG01920, HG01111, NA18623, HG02351, HG03198, HG02406, HG01927, HG03196, HG01926
Known GenesMIR1273H, UGDH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600285
Frequency
Sample Size2504
Observed Gain0
Observed Loss145
Observed Complex0
Frequencyn/a


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