A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv710e201



Internal ID18984349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41806048..41806365hg38UCSC Ensembl
chr21:43226208..43226525hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723502, esv2723504
SamplesSSM082, SSM086, SSM091, SSM078, SSM088, SSM089, SSM031, SSM032, SSM045, SSM094, SSM041, SSM011, SSM046, SSM004, SSM026, SSM076
Known GenesPRDM15
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)dgv710e201
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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