A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757614



Internal ID18731860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48619959..48628612hg38UCSC Ensembl
OuterchrX:48619613..48628712hg38UCSC Ensembl
InnerchrX:48478347..48487000hg19UCSC Ensembl
OuterchrX:48478001..48487100hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558867
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757614
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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