A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5398953



Internal ID8376356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143517534..143720811hg38UCSC Ensembl
chrX:142605362..142803905hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38203278
hg19198544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656778
Supporting Variants
SamplesNA19455
Known GenesSLITRK4, SPANXN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5398953
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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