A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559461



Internal ID18413851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150769592..150769707hg38UCSC Ensembl
OuterchrX:150769586..150769712hg38UCSC Ensembl
InnerchrX:149938065..149938180hg19UCSC Ensembl
OuterchrX:149938059..149938185hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758208
Samples
Known GenesCD99L2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559461
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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