A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757709



Internal ID18385269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71259054..71260212hg38UCSC Ensembl
OuterchrX:71259039..71260288hg38UCSC Ensembl
InnerchrX:70478904..70480062hg19UCSC Ensembl
OuterchrX:70478889..70480138hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558962
Supporting Variants
Samples
Known GenesBCYRN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757709
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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