A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12n47



Internal ID20133305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55597043..55690275hg38UCSC Ensembl
chr11:55364519..55457751hg19UCSC Ensembl
chr11:55121095..55214327hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3893233
hg1993233
hg1893233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv498758, nsv498757
Samples
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
MethodSequencing
AnalysisFor each individuals we constructed a whole genomic library of approximately 1 million clones using a fosdmid subcloning strategy Paried end sequences from each clone were sequenced and searched against NCBI build35. Individual fosmid clones corresponding to regions of structural difference relative to the genome reference were selected and sequenced. The breakpoints determined from complete fosmid sequencing are given using the NCBI build36 genome assembly.
PlatformCapillary
Comments
ReferenceKidd_et_al_2010b
Pubmed ID21111241
Accession Number(s)dgv12n47
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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