A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859253



Internal ID10008835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2464347..2464540hg38UCSC Ensembl
OuterchrX:2382388..2382581hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739858, esv2739859, esv2739857, esv2739860
Supporting Variants
SamplesSSM011
Known GenesDHRSX
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)essv6859253
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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