A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5e197



Internal ID20123237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74821365..74821694hg38UCSC Ensembl
chr11:74532410..74532739hg19UCSC Ensembl
chr11:74210058..74210387hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2563156, esv2465516
SamplesNA18507
Known GenesRNF169
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)dgv5e197
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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