A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv939e201



Internal ID22760297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38821134..38821405hg38UCSC Ensembl
chr5:38821236..38821507hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2730103, esv2740837, esv2730104
SamplesSSM042, SSM088, SSM090, SSM026, SSM019, SSM033, SSM007, SSM034
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)dgv939e201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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