A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876107



Internal ID9925293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47233569..47234015hg38UCSC Ensembl
OuterchrX:47092968..47093414hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740137
Supporting Variants
SamplesSSM092
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)essv6876107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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