A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661325



Internal ID9927430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:137424857..137429263hg38UCSC Ensembl
OuterchrX:137424486..137429633hg38UCSC Ensembl
InnerchrX:136507016..136511422hg19UCSC Ensembl
OuterchrX:136506645..136511792hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6496949, essv5723907, essv5726727, essv5789876, essv5439241, essv6167923, essv6022565, essv6167476, essv5835320, essv5623994, essv5758755, essv5439140, essv5961625, essv5992882, essv6391765, essv6232789, essv5578423, essv5677264, essv6123802, essv5630172, essv5810174, essv5831853, essv5772798, essv5752148, essv5694928, essv6141041, essv5798101, essv5709097, essv5416829, essv6335036, essv6482451, essv6153628, essv6480056, essv5559444, essv6500254, essv6001224, essv6591314, essv6282955, essv5753500, essv6079416, essv6066198, essv6472175, essv6534113, essv5796057, essv5949856, essv5848218, essv6512677, essv5669256, essv5588868, essv6056323, essv5976410, essv5582517, essv6286649, essv6404775, essv5619112, essv5499031, essv5902782, essv6514054, essv5758299, essv5771536, essv5488243, essv5636709
SamplesNA19394, NA19397, NA19466, NA19332, NA19350, NA19359, NA19393, NA19443, NA19446, NA19374, NA19373, NA19319, NA19382, NA19448, NA19457, NA19313, NA19384, NA19383, NA19372, NA19371, NA19385, NA19317, NA19456, NA19445, NA19451, NA19437, NA19347, NA19327, NA19455, NA19461, NA19449, NA19453, NA19452, NA19469, NA19318, NA19395, NA19436, NA19375, NA19440, NA19321, NA19434, NA19444, NA19331, NA19380, NA19334, NA19439, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19376, NA19328, NA19438, NA19474, NA19430, NA19312, NA19463, NA19429, NA19346, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661325
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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