A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv989e201



Internal ID20125876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16265933..16266396hg38UCSC Ensembl
chr6:16266164..16266627hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742876, esv2740998, esv2742319
SamplesSSM086, SSM039, SSM018
Known GenesGMPR
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)dgv989e201
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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