A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559460



Internal ID18760536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150382917..150383177hg38UCSC Ensembl
OuterchrX:150382822..150383248hg38UCSC Ensembl
InnerchrX:149551185..149551445hg19UCSC Ensembl
OuterchrX:149551090..149551516hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758207
Samples
Known GenesMAMLD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559460
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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