A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732832



Internal ID9998302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:131160699..131169990hg38UCSC Ensembl
OuterchrX:130294673..130303964hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg389292
hg199292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740480
Supporting Variants
SamplesSSM007
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)essv6732832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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