A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588479



Internal ID6975896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196850486..196901215hg38UCSC Ensembl
chr1:196819616..196870345hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3850730
hg1950730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253355, essv10253348, essv10253383, essv10253359, essv10253398, essv10253389, essv10253364, essv10253387, essv10253349, essv10253384, essv10253369, essv10253362, essv10253380, essv10253411, essv10253414, essv10253351, essv10253396, essv10253371, essv10253360, essv10253354, essv10253357, essv10253391, essv10253365, essv10253330, essv10253423, essv10253399, essv10253331, essv10253416, essv10253345, essv10253400, essv10253375, essv10253378, essv10253379, essv10253419, essv10253370, essv10253335, essv10253394, essv10253390, essv10253374, essv10253361, essv10253333, essv10253403, essv10253338, essv10253367, essv10253332, essv10253408, essv10253407, essv10253343, essv10253356, essv10253401, essv10253358, essv10253340, essv10253372, essv10253415, essv10253393, essv10253337, essv10253368, essv10253422, essv10253339, essv10253382, essv10253385, essv10253350, essv10253421, essv10253342, essv10253347, essv10253409, essv10253420, essv10253329, essv10253373, essv10253397, essv10253395, essv10253336, essv10253344, essv10253405, essv10253376, essv10253404, essv10253352, essv10253418, essv10253410, essv10253386, essv10253381, essv10253363, essv10253402, essv10253413, essv10253341, essv10253353, essv10253334, essv10253377, essv10253346, essv10253417, essv10253392, essv10253388, essv10253366, essv10253412, essv10253406
SamplesNA18745, HG00650, HG01855, NA21099, HG03517, NA19704, HG02337, HG02029, HG00315, HG03115, HG03521, NA20298, HG01802, HG03100, NA18870, NA18526, HG00327, NA20814, NA19446, NA19068, NA18563, HG00251, NA18597, NA18489, HG03943, HG00689, HG00173, NA19131, HG02130, NA18642, NA19130, NA19038, NA18611, HG02512, HG02634, NA20340, HG00534, HG03195, HG03073, NA19456, HG01524, HG00982, HG04225, HG01871, NA18956, HG02108, NA19663, HG03457, HG02497, HG01029, HG01630, NA20876, HG03311, HG00324, HG03563, HG03472, HG00651, HG00479, HG03388, HG01705, HG01403, NA18634, NA19308, NA19003, HG02557, NA19256, NA19149, HG03539, HG02064, HG00580, HG02314, NA21123, NA19428, HG04090, NA21094, HG02558, NA20888, HG00707, HG02974, NA20582, HG03279, HG01799, HG03351, HG00186, HG00280, NA19213, HG00343, NA18505, HG00171, HG01672, HG03198, HG00554, NA18549, HG03129, HG01805
Known GenesCFHR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588479
Frequency
Sample Size2504
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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