A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558848



Internal ID18759924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95519463..95519726hg38UCSC Ensembl
InnerchrX:45587573..45587861hg19UCSC Ensembl
OuterchrX:45587526..45587894hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38264
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757595
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558848
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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