A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv142e201



Internal ID20125029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67669934..67670397hg38UCSC Ensembl
chr11:67437405..67437868hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2744647, esv2744650
SamplesSSM027, SSM040, SSM024, SSM045, SSM029, SSM096, SSM044, SSM026, SSM059, SSM070
Known GenesALDH3B2
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)dgv142e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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