A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv64e201



Internal ID20124951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991155..247992289hg38UCSC Ensembl
chr1:248154457..248155591hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2727973, esv2727951
SamplesSSM059, SSM065, SSM058, SSM084, SSM033, SSM006, SSM020, SSM016, SSM055, SSM099
Known GenesOR2L13, OR2L1P
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)dgv64e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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