A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv845e201



Internal ID20125732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69275693..69431705hg38UCSC Ensembl
chr4:70141411..70297423hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38156013
hg19156013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2727781, esv2742160
SamplesSSM100, SSM008, SSM009, SSM088, SSM057, SSM021, SSM047, SSM029, SSM003, SSM031, SSM044, SSM086, SSM033, SSM081, SSM078, SSM052, SSM030
Known GenesUGT2B28
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)dgv845e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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