A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680860



Internal ID9750385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3688091..3688601hg38UCSC Ensembl
OuterchrX:3606132..3606642hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739903
Supporting Variants
SamplesSSM033
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)essv6680860
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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