A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558996



Internal ID18760072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:78072389..78072708hg38UCSC Ensembl
OuterchrX:78072378..78072716hg38UCSC Ensembl
InnerchrX:77327886..77328205hg19UCSC Ensembl
OuterchrX:77327875..77328213hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757743
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558996
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer