A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855970



Internal ID9907170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47233721..47233860hg38UCSC Ensembl
OuterchrX:47093120..47093259hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740138, esv2740137
Supporting Variants
SamplesSSM087
Known GenesUSP11
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)essv6855970
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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