A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558664



Internal ID18413054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:19447884..19451273hg38UCSC Ensembl
OuterchrX:19447642..19451931hg38UCSC Ensembl
InnerchrX:19466002..19469391hg19UCSC Ensembl
OuterchrX:19465760..19470049hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg384290
hg194290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757411
Samples
Known GenesMAP3K15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558664
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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