A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559046



Internal ID18760122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:85088025..85088206hg38UCSC Ensembl
OuterchrX:85087976..85088237hg38UCSC Ensembl
InnerchrX:84343031..84343212hg19UCSC Ensembl
OuterchrX:84342982..84343243hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757793
Samples
Known GenesAPOOL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559046
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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