A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758029



Internal ID18385589
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 StatusS
Merged Variantsesv3559282
Supporting Variants
Samples
Known GenesTHOC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758029
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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