A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666836



Internal ID9932941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16454054..16461127hg38UCSC Ensembl
chrX:16472177..16479250hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg387074
hg197074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5558260, essv6016576, essv5714285, essv5849463, essv5464955, essv6094878, essv5434078, essv5963801
SamplesNA18519, NA19315, HG01365, NA19384, NA19235, NA18499, NA19473, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666836
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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