A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758267



Internal ID18732513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155560653..155571335hg38UCSC Ensembl
OuterchrX:155560340..155573872hg38UCSC Ensembl
InnerchrX:154790314..154800996hg19UCSC Ensembl
OuterchrX:154790001..154803533hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3813533
hg1913533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559520
Supporting Variants
Samples
Known GenesTMLHE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758267
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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