A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668427



Internal ID9934532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:35609325..35616279hg38UCSC Ensembl
chrX:35627442..35634396hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg386955
hg196955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5534855, essv5937375, essv5948294, essv6349180, essv5698243, essv5938331, essv5522580, essv5541806, essv5923703, essv6505049, essv5910840, essv5696387, essv5951416, essv5753732, essv6208766, essv5818784, essv5804958, essv5632291, essv5621809, essv5942711, essv6045060, essv6543446, essv6005810, essv6593941, essv6302173, essv5832406, essv6480870, essv6136927, essv6242449, essv6385712, essv5441206, essv6271501, essv5960034, essv5793235, essv6074777, essv6282259, essv5595275, essv5848466, essv6312994, essv5551626, essv6352829, essv5431203
SamplesNA19701, HG01052, NA18561, NA12045, NA12750, NA07357, NA19171, NA19005, NA18944, NA18940, NA18489, NA19119, NA12891, NA19138, NA18868, NA19719, NA11994, NA19471, NA19239, NA18908, NA19247, NA19210, NA19118, NA19160, NA18974, NA12043, NA12716, NA18909, NA19108, NA19473, NA19144, NA18501, NA18971, NA19713, NA19093, NA18609, NA19102, NA18873, NA18505, NA12154, NA19153, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668427
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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