A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559342



Internal ID18760418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:132665200..132667730hg38UCSC Ensembl
OuterchrX:132665137..132667763hg38UCSC Ensembl
InnerchrX:131799228..131801758hg19UCSC Ensembl
OuterchrX:131799165..131801791hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg382627
hg192627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758089
Samples
Known GenesHS6ST2, HS6ST2-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559342
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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