A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657460



Internal ID9923565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132805403..132807514hg38UCSC Ensembl
chrX:131939431..131941542hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg382112
hg192112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5992260, essv6165927, essv6105177, essv6444143, essv5564759, essv5588372, essv6580228, essv5786125, essv6045683, essv6149688, essv6122326, essv6270001, essv6503501, essv6411709, essv5475741, essv5964788, essv5714405, essv5836067, essv6396459, essv5535392, essv6100636, essv5650714, essv6435199, essv5921024, essv6541296, essv5460397, essv5723000, essv5666373, essv6453951, essv6324410, essv5884044
SamplesNA20529, NA11829, HG00151, HG00233, NA12058, HG00177, NA12341, HG00127, HG00251, NA20798, HG00369, HG00270, HG00139, HG00106, NA20819, NA11993, NA10847, NA12777, HG01136, HG00282, HG00245, NA20538, NA06989, HG00124, HG00375, HG01174, HG01375, HG00237, HG00123, NA19770, HG00252
Known GenesHS6ST2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657460
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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