A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559459



Internal ID18413849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150374846..150383001hg38UCSC Ensembl
OuterchrX:150374735..150383232hg38UCSC Ensembl
InnerchrX:149543112..149551269hg19UCSC Ensembl
OuterchrX:149543001..149551500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388498
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758206
Samples
Known GenesMAMLD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559459
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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