A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1045e201



Internal ID11594889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168596093..168596343hg38UCSC Ensembl
chr6:168996773..168997023hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2733391, esv2733389
SamplesSSM027, SSM082, SSM031, SSM025, SSM005, SSM019
Known GenesSMOC2
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)dgv1045e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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