A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595494



Internal ID6982812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20968005..20972016hg38UCSC Ensembl
Innerchr3:20968005..20972016hg38UCSC Ensembl
Outerchr3:20967586..20972429hg38UCSC Ensembl
chr3:21009497..21013508hg19UCSC Ensembl
Innerchr3:21009497..21013508hg19UCSC Ensembl
Outerchr3:21009078..21013921hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384012
hg194012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10946414, essv10946341, essv10946328, essv10946406, essv10946383, essv10946357, essv10946316, essv10946287, essv10946379, essv10946388, essv10946273, essv10946393, essv10946337, essv10946301, essv10946350, essv10946281, essv10946385, essv10946373, essv10946305, essv10946335, essv10946307, essv10946423, essv10946332, essv10946391, essv10946295, essv10946415, essv10946437, essv10946303, essv10946298, essv10946365, essv10946324, essv10946420, essv10946430, essv10946299, essv10946360, essv10946351, essv10946321, essv10946293, essv10946396, essv10946340, essv10946326, essv10946314, essv10946320, essv10946361, essv10946294, essv10946429, essv10946386, essv10946319, essv10946312, essv10946342, essv10946306, essv10946384, essv10946322, essv10946310, essv10946381, essv10946434, essv10946288, essv10946382, essv10946403, essv10946354, essv10946265, essv10946300, essv10946285, essv10946284, essv10946389, essv10946291, essv10946431, essv10946297, essv10946259, essv10946387, essv10946323, essv10946258, essv10946405, essv10946336, essv10946272, essv10946397, essv10946330, essv10946362, essv10946271, essv10946261, essv10946363, essv10946304, essv10946408, essv10946399, essv10946313, essv10946419, essv10946409, essv10946345, essv10946339, essv10946353, essv10946426, essv10946308, essv10946427, essv10946283, essv10946395, essv10946262, essv10946380, essv10946355, essv10946424, essv10946264, essv10946375, essv10946344, essv10946278, essv10946436, essv10946349, essv10946401, essv10946334, essv10946433, essv10946398, essv10946317, essv10946267, essv10946416, essv10946407, essv10946412, essv10946290, essv10946400, essv10946366, essv10946302, essv10946372, essv10946435, essv10946289, essv10946440, essv10946377, essv10946392, essv10946286, essv10946347, essv10946318, essv10946364, essv10946346, essv10946438, essv10946280, essv10946418, essv10946369, essv10946331, essv10946374, essv10946343, essv10946277, essv10946274, essv10946266, essv10946411, essv10946338, essv10946325, essv10946333, essv10946270, essv10946269, essv10946282, essv10946358, essv10946356, essv10946394, essv10946439, essv10946378, essv10946371, essv10946352, essv10946348, essv10946260, essv10946263, essv10946309, essv10946276, essv10946425, essv10946296, essv10946359, essv10946368, essv10946413, essv10946370, essv10946390, essv10946410, essv10946279, essv10946421, essv10946376, essv10946367, essv10946327, essv10946432, essv10946311, essv10946329, essv10946268, essv10946422, essv10946402, essv10946292, essv10946428, essv10946417, essv10946315, essv10946275, essv10946404
SamplesHG02658, NA21097, HG02385, NA18647, HG03753, HG01586, HG03717, HG02661, NA21092, NA18979, NA18528, HG04002, HG02360, NA19795, NA18639, HG00699, HG01531, NA12004, HG03926, NA21115, HG04164, HG02384, NA12155, NA19067, HG00271, NA20846, HG00663, NA18563, HG03235, HG01325, HG04038, NA18597, HG04022, NA20850, NA20798, HG00689, HG03937, NA18567, HG03873, NA20795, HG00129, NA18547, HG03905, HG01816, NA20768, NA20540, HG02733, NA19681, NA20910, NA12761, HG03887, HG00632, HG02067, NA06984, HG00236, NA20896, HG02736, HG01757, HG00262, HG00113, HG03788, HG01046, HG00534, NA18617, HG02082, HG03947, NA21107, HG03995, NA19002, NA18985, HG01771, NA18975, NA20757, HG01550, NA21105, HG01851, HG00739, NA21122, HG01524, HG00154, NA18605, NA20800, NA18538, HG00982, NA19006, HG03644, HG02142, HG02025, HG00428, HG00190, HG01271, HG01515, HG00475, NA19717, NA20862, HG00584, HG00598, HG00583, HG04035, HG02728, NA21098, NA18572, HG01808, HG03871, HG01512, NA20866, HG02494, HG01504, HG01241, NA18946, NA20856, HG00140, HG02725, HG02031, HG01286, HG04118, HG00240, NA18541, HG03934, NA18632, HG03866, HG04188, NA18535, NA18543, HG04006, HG02696, NA18950, HG03838, HG02790, HG00136, HG01874, NA12873, HG01174, HG03850, NA18629, HG03012, HG01798, NA20516, NA12874, NA21094, NA12763, HG02019, HG04003, HG00339, HG03703, NA20897, HG01765, HG00478, HG01491, HG04015, HG00259, NA21088, HG03849, HG04014, HG01846, HG02116, NA18636, NA21093, HG03998, HG03716, HG03684, NA20758, HG02186, HG00252, HG00105, NA20886, NA20503, NA19661, HG03882, NA19004, HG01869, NA20827, HG03867, NA21104, HG03985, NA18612, HG01805, NA19074, NA18622, NA11832, NA19676, HG03864, NA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595494
Frequency
Sample Size2504
Observed Gain0
Observed Loss183
Observed Complex0
Frequencyn/a


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