A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5583373



Internal ID8560776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155552154..155557960hg38UCSC Ensembl
OuterchrX:155551997..155558116hg38UCSC Ensembl
InnerchrX:154781815..154787621hg19UCSC Ensembl
OuterchrX:154781658..154787777hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669858
Supporting Variants
SamplesNA20754
Known GenesTMLHE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5583373
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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