A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991240



Internal ID7061784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8489564..8545448hg38UCSC Ensembl
InnerchrX:8457605..8513489hg19UCSC Ensembl
InnerchrX:8417605..8473489hg18UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3855885
hg1955885
hg1855885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586504
SamplesHuRef
Known GenesKAL1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991240
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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