A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007793



Internal ID7072887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41747649..41755929hg38UCSC Ensembl
OuterchrX:41606902..41615182hg19UCSC Ensembl
OuterchrX:41491846..41500126hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg388281
hg198281
hg188281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565509
SamplesHuRef
Known GenesCASK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007793
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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