A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558555



Internal ID18412945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3688230..3688590hg38UCSC Ensembl
OuterchrX:3688119..3688625hg38UCSC Ensembl
InnerchrX:3606271..3606631hg19UCSC Ensembl
OuterchrX:3606160..3606666hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757302
Samples
Known GenesPRKX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558555
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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