A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559289



Internal ID18760365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:124628782..124629094hg38UCSC Ensembl
OuterchrX:124628749..124629129hg38UCSC Ensembl
InnerchrX:123762632..123762944hg19UCSC Ensembl
OuterchrX:123762599..123762979hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758036
Samples
Known GenesTENM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559289
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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