A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv33n47



Internal ID22767797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1575109..1613615hg38UCSC Ensembl
chr20:1555755..1594261hg19UCSC Ensembl
chr20:1503755..1542261hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3838507
hg1938507
hg1838507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv498963, nsv498961, nsv498959, nsv498962, nsv498960
Samples
Known GenesSIRPB1
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)dgv33n47
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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