A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28e197



Internal ID20123260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132675869..132675934hg38UCSC Ensembl
chr5:132011561..132011626hg19UCSC Ensembl
chr5:132039460..132039525hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2518711, esv2592463
SamplesNA18507
Known GenesIL4
MethodSequencing
AnalysisThe small_indels files contain insertions and deletions detected using the AB Small indel tool. After individual sequence tags from fragment and 2x25 mate pair data are matched to the reference, insertion of up to 3 bases and deletions of up to 11 bases are reported. Somewhat larger indels (12-500 bp) can be detected in the 2x50 mate pair data and these are included as well (Yoruban_med_ins_04_14.gff, Yoruban_med_ins_15_19.gff, Yoruban_med_del_12_500.gff). Small and medium indel files include a number of name=value attributes as described in the small indel tool manual.
PlatformNot specified
Comments
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)dgv28e197
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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