A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677131



Internal ID9943236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33818549..33823855hg38UCSC Ensembl
OuterchrX:33818178..33824225hg38UCSC Ensembl
InnerchrX:33836666..33841972hg19UCSC Ensembl
OuterchrX:33836295..33842342hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5859856, essv6004456, essv6346684, essv5496922, essv6595451, essv5850744, essv6107566, essv5547786, essv5813735, essv5907137, essv5952603, essv5735655, essv6110788, essv6415272, essv6322242, essv6333056, essv5461102, essv6337403, essv5625882, essv5741103, essv6543595, essv5973673, essv5736552, essv6532440, essv5787038, essv6242758, essv5443780, essv5826753, essv6505813, essv5856580, essv5610275, essv5466873, essv5483868, essv5850052, essv6073535, essv5652253, essv6181291, essv6552205, essv6121485, essv5675436, essv5572056, essv6405287, essv5732225, essv6158347, essv6488588, essv6429933, essv6089528, essv5399752, essv6460679, essv5632914, essv6372999, essv5736050, essv6283876, essv6522018, essv5920538, essv5717667, essv6023282, essv6502934, essv5616280
SamplesNA19394, NA19397, NA19466, NA19332, NA19350, NA19359, NA19393, NA19443, NA19446, NA19374, NA19373, NA19319, NA19382, NA19448, NA19457, NA19313, NA19384, NA19383, NA19372, NA19371, NA19385, NA19456, NA19445, NA19451, NA19437, NA19347, NA19327, NA19455, NA19461, NA19449, NA19453, NA19452, NA19318, NA19375, NA19440, NA19321, NA19434, NA19444, NA19331, NA19380, NA19334, NA19439, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19376, NA19328, NA19438, NA19472, 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)esv2677131
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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