A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666518



Internal ID9932623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115594253..115594863hg38UCSC Ensembl
OuterchrX:115594216..115594913hg38UCSC Ensembl
InnerchrX:114828565..114829175hg19UCSC Ensembl
OuterchrX:114828528..114829225hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6193852, essv5974981
SamplesNA12155, HG01073
Known GenesPLS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666518
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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