A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991320



Internal ID6727284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:13879754..13885722hg38UCSC Ensembl
OuterchrX:13897873..13903841hg19UCSC Ensembl
OuterchrX:13807794..13813762hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385969
hg195969
hg185969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563565
SamplesHuRef
Known GenesGPM6B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991320
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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