A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559346



Internal ID18413736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:132805788..132807426hg38UCSC Ensembl
OuterchrX:132805361..132807942hg38UCSC Ensembl
InnerchrX:131939816..131941454hg19UCSC Ensembl
OuterchrX:131939389..131941970hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg382582
hg192582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758093
Samples
Known GenesHS6ST2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559346
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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