A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701647



Internal ID9768907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135614976..135912530hg38UCSC Ensembl
OuterchrX:134748901..134994689hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38297555
hg19245789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740498
Supporting Variants
SamplesSSM039
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6, SAGE1
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)essv6701647
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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