A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv161e201



Internal ID20125048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1121527..1122589hg38UCSC Ensembl
chr12:1230693..1231755hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745384, esv2745382
SamplesSSM007, SSM088, SSM031, SSM016, SSM093, SSM017, SSM066, SSM034, SSM046, SSM019, SSM023, SSM068, SSM075
Known GenesERC1
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)dgv161e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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