A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684436



Internal ID10098574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79816709..79817004hg38UCSC Ensembl
OuterchrX:79072206..79072501hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740249
Supporting Variants
SamplesSSM034
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)essv6684436
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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