A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv18n47



Internal ID22767782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79821641..79843108hg38UCSC Ensembl
chr13:80395776..80417243hg19UCSC Ensembl
chr13:79293777..79315244hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3821468
hg1921468
hg1821468
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv499799, nsv499753
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)dgv18n47
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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