A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2994901



Internal ID10667881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155560339..155568339hg38UCSC Ensembl
InnerchrX:154790000..154798000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7264468
SamplesHuRef
Known GenesTMLHE
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2994901
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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