A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701589



Internal ID9768968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3688241..3688586hg38UCSC Ensembl
OuterchrX:3606282..3606627hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739903
Supporting Variants
SamplesSSM039
Known GenesPRKX
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)essv6701589
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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