A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740185



Internal ID9974527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55610698..55610947hg38UCSC Ensembl
OuterchrX:55637131..55637380hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876115, essv6712337, essv6687684, essv6682343, essv6932840, essv6671889, essv6818801, essv6808803
SamplesSSM075, SSM042, SSM092, SSM035, SSM003, SSM031, SSM078, SSM005
Known Genes
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)esv2740185
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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