A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740494



Internal ID10324130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134960020..134961258hg38UCSC Ensembl
OuterchrX:134094050..134095288hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734722, essv6818826
SamplesSSM078, SSM049
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740494
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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