A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1300e201



Internal ID22760658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1368639..1368965hg38UCSC Ensembl
chrX: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 Variants
Supporting Variantsesv2739691, esv2739689, esv2739687
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)dgv1300e201
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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