A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739687



Internal ID10323323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1368639..1368965hg38UCSC Ensembl
OuterchrX:1487532..1487858hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1300e201
Supporting Variantsessv6943971, essv6799378, essv6694701, essv6705474, essv6727584, essv6802915, essv6948291, essv6859098, essv6778694, essv6701566, essv6893966, essv6849853, essv6861421, essv6814740, essv6723708, essv6682044, essv6927243, essv6897090, essv6884566
SamplesSSM024, SSM045, SSM046, SSM011, SSM039, SSM073, SSM088, SSM023, SSM019, SSM067, SSM086, SSM040, SSM072, SSM005, SSM037, SSM077, SSM095, SSM099, SSM098
Known GenesIL3RA
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)esv2739687
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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