A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv38n47



Internal ID22767802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50887908..50895981hg38UCSC Ensembl
chr3:50925339..50934970hg19UCSC Ensembl
chr3:50899679..50910048hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg388074
hg199632
hg1810370
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv499089, nsv499733
Samples
Known GenesDOCK3
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)dgv38n47
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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