A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805814



Internal ID10209175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2464214..2464791hg38UCSC Ensembl
OuterchrX:2382255..2382832hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739858, esv2739859, esv2739857
Supporting Variants
SamplesSSM074
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)essv6805814
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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