A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740213



Internal ID9974555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71537033..71537518hg38UCSC Ensembl
OuterchrX:70756883..70757368hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749122
SamplesSSM056
Known GenesBCYRN1, OGT
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)esv2740213
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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