A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv141e201



Internal ID20125028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64855728..64856282hg38UCSC Ensembl
chr11:64623200..64623754hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741836, esv2742511
SamplesSSM093, SSM070
Known GenesEHD1
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)dgv141e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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