A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668620



Internal ID9934725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:30231199..30234155hg38UCSC Ensembl
OuterchrX:30230828..30234525hg38UCSC Ensembl
InnerchrX:30249316..30252272hg19UCSC Ensembl
OuterchrX:30248945..30252642hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg383698
hg193698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5817091, essv6078051, essv6340003, essv6167259, essv5683734, essv5821498, essv5755446, essv5883208, essv6248774, essv6067571, essv6026108, essv6258555, essv5913692, essv6353800, essv5998530, essv5884967, essv6361254, essv6323095, essv6156098, essv5538340, essv5626227, essv5879033, essv6209238, essv5708421, essv5706867, essv6477391, essv6284989, essv6161624, essv6160419, essv6284374, essv5811049, essv5811141, essv6261238, essv5630228, essv6276171, essv5840730, essv5418711, essv5984840, essv5668042, essv5653032, essv5870877, essv6582910, essv6564909, essv6025167, essv5669624, essv5446558, essv5698900, essv6444967, essv6350136, essv6414240, essv5990412, essv6512555, essv6280981, essv6519591, essv5764454, essv6579980, essv5979196, essv5416159, essv6004559, essv6451784, essv6016922, essv6211210
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, NA19375, NA19440, NA19321, NA19434, NA19435, NA19444, NA19331, NA19380, NA19334, NA19439, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19376, NA19328, NA19438, NA19468, NA19474, NA19430, NA19312, NA19463, NA19429, NA19346, NA19431
Known GenesMAGEB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668620
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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