A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665559



Internal ID9931664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134213691..134218230hg38UCSC Ensembl
chrX:133347721..133352260hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg384540
hg194540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6404806, essv6018687, essv5616966, essv5792935, essv5533911, essv6136604, essv6304034, essv6251957, essv6103291, essv5430330, essv6398756, essv5633927, essv6431297
SamplesNA12717, NA20531, NA12004, NA12155, NA20814, NA11918, NA12275, NA20770, NA12778, HG00285, HG00269, NA20582, HG00343
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665559
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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