A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775017



Internal ID9834313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3691204..3691610hg38UCSC Ensembl
OuterchrX:3609245..3609651hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739904
Supporting Variants
SamplesSSM066
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)essv6775017
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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