A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694717



Internal ID10110451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2448368..2470805hg38UCSC Ensembl
OuterchrX:2366409..2388846hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3822438
hg1922438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739857
Supporting Variants
SamplesSSM037
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)essv6694717
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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