A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1046e201



Internal ID11594890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168846893..168847836hg38UCSC Ensembl
chr6:169246988..169247931hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2733422, esv2733424, esv2733426
SamplesSSM086, SSM040, SSM089, SSM032, SSM039, SSM024, SSM045, SSM017, SSM029, SSM047, SSM069, SSM037, SSM079, SSM026
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)dgv1046e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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