A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558672



Internal ID18413062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20220461..20220548hg38UCSC Ensembl
chrX:20238579..20238666hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757419
Samples
Known GenesRPS6KA3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558672
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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