A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559319



Internal ID18760395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129186706..129193523hg38UCSC Ensembl
OuterchrX:129186485..129193667hg38UCSC Ensembl
InnerchrX:128320683..128327500hg19UCSC Ensembl
OuterchrX:128320462..128327644hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387183
hg197183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758066
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559319
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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