A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6193852



Internal ID9254724
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 StatusS
Merged Variantsesv2666518
Supporting Variants
SamplesNA12155
Known GenesPLS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6193852
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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