A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739716



Internal ID9974057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1443324..1443619hg38UCSC Ensembl
OuterchrX:1562217..1562512hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849856, essv6680845
SamplesSSM086, SSM033
Known GenesASMTL
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)esv2739716
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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