A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1312e201



Internal ID22760670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2827061..2827262hg38UCSC Ensembl
chrX:2745102..2745303hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739886, esv2739885
SamplesSSM024, SSM045, SSM029, SSM086, SSM072, SSM020
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)dgv1312e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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