A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv21n47



Internal ID20133314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73530257..73558555hg38UCSC Ensembl
chr14:73996961..74025259hg19UCSC Ensembl
chr14:73066714..73095012hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828299
hg1928299
hg1828299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv498831, nsv498832
Samples
Known GenesACOT1, HEATR4
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)dgv21n47
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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