A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782719



Internal ID9841284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3688164..3688613hg38UCSC Ensembl
OuterchrX:3606205..3606654hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739903
Supporting Variants
SamplesSSM068
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)essv6782719
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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