A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740138



Internal ID9974480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47233705..47233860hg38UCSC Ensembl
OuterchrX:47093104..47093259hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957857, essv6855970
SamplesSSM087, SSM026
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)esv2740138
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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