A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559282



Internal ID18413672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123719151..123726912hg38UCSC Ensembl
OuterchrX:123718849..123727650hg38UCSC Ensembl
InnerchrX:122853001..122860762hg19UCSC Ensembl
OuterchrX:122852699..122861500hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg388802
hg198802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758029
Samples
Known GenesTHOC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559282
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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