A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559136



Internal ID18760212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:97351769..97353678hg38UCSC Ensembl
OuterchrX:97351525..97353795hg38UCSC Ensembl
InnerchrX:96606768..96608677hg19UCSC Ensembl
OuterchrX:96606524..96608794hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg382271
hg192271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757883
Samples
Known GenesDIAPH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559136
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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