A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870167



Internal ID10266633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27444421..27444563hg38UCSC Ensembl
OuterchrX:27462538..27462680hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740036, esv2740037
Supporting Variants
SamplesSSM090
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)essv6870167
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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