A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658705



Internal ID9924810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139338514..139353786hg38UCSC Ensembl
chrX:138420673..138435945hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3815273
hg1915273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5708448, essv6091934
SamplesNA19657, NA19785
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658705
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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