A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666298



Internal ID9932403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:128008245..128107757hg38UCSC Ensembl
chrX:127142224..127241736hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3899513
hg1999513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6048836, essv6097285
SamplesNA18558, NA18615
Known GenesACTRT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666298
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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