A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674973



Internal ID9941078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:4464139..4473987hg38UCSC Ensembl
chrX:4382180..4392028hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389849
hg199849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6202573, essv5883303
SamplesNA19257, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674973
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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