A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40n47



Internal ID22767804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108000984..108023285hg38UCSC Ensembl
chr3:107719831..107742132hg19UCSC Ensembl
chr3:109202521..109224822hg18UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3822302
hg1922302
hg1822302
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv499118, nsv499116
Samples
Known Genes
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)dgv40n47
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer