A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667250



Internal ID9933355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45429786..45433582hg38UCSC Ensembl
chrX:45289031..45292827hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg383797
hg193797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5712557
SamplesNA19083
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667250
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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