A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758089



Internal ID18732335
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 StatusS
Merged Variantsesv3559342
Supporting Variants
Samples
Known GenesHS6ST2, HS6ST2-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758089
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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