A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739504



Internal ID3290000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:643976..644230hg38UCSC Ensembl
OuterchrX:604711..604965hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790992
SamplesSSM070
Known GenesSHOX
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)esv2739504
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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