A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7264468



Internal ID10542750
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 StatusS
Merged Variantsesv2994901
Supporting Variants
SamplesHuRef
Known GenesTMLHE
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7264468
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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