A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585558



Internal ID6625875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27244918..27245953hg38UCSC Ensembl
Innerchr1:27244918..27245953hg38UCSC Ensembl
Outerchr1:27244417..27246303hg38UCSC Ensembl
chr1:27571409..27572444hg19UCSC Ensembl
Innerchr1:27571409..27572444hg19UCSC Ensembl
Outerchr1:27570908..27572794hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894249, essv9894302, essv9894279, essv9894274, essv9894290, essv9894308, essv9894238, essv9894259, essv9894291, essv9894284, essv9894263, essv9894303, essv9894231, essv9894255, essv9894251, essv9894269, essv9894265, essv9894286, essv9894288, essv9894254, essv9894275, essv9894293, essv9894278, essv9894273, essv9894301, essv9894276, essv9894244, essv9894241, essv9894242, essv9894282, essv9894277, essv9894298, essv9894271, essv9894234, essv9894287, essv9894256, essv9894268, essv9894260, essv9894257, essv9894281, essv9894295, essv9894250, essv9894297, essv9894305, essv9894283, essv9894246, essv9894296, essv9894292, essv9894252, essv9894294, essv9894309, essv9894261, essv9894253, essv9894243, essv9894262, essv9894289, essv9894258, essv9894237, essv9894300, essv9894239, essv9894233, essv9894232, essv9894264, essv9894272, essv9894247, essv9894266, essv9894235, essv9894240, essv9894304, essv9894285, essv9894270, essv9894267, essv9894248, essv9894236, essv9894306, essv9894299, essv9894280, essv9894307, essv9894245, essv9894310
SamplesHG03514, HG01412, NA19397, HG02583, NA19204, NA18508, NA19332, NA19020, HG02891, NA19355, NA20346, HG03172, HG03372, HG02621, HG02595, HG03370, HG02860, NA18916, HG03479, HG03189, NA18874, NA19235, NA19207, HG02946, HG02427, HG01058, NA19025, NA18867, NA19451, NA19027, HG02442, HG01183, HG03120, HG02439, NA19247, HG03054, NA19437, NA19152, HG01879, HG02470, HG03311, HG03136, NA19042, HG03397, HG03388, NA19452, HG02585, NA19318, HG02332, NA19395, NA19035, NA19434, HG02546, NA19435, NA19037, HG02304, HG01272, HG02923, NA19380, NA18865, HG03127, HG01137, NA19143, NA19328, NA19438, NA19223, HG03025, NA19468, NA19093, HG03258, HG02462, NA19030, HG02947, NA19430, HG01886, HG02629, NA19429, NA19346, HG03166, HG01507
Known GenesWDTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585558
Frequency
Sample Size2504
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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