A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2433457



Internal ID8150330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160219099..160219299hg38UCSC Ensembl
chr6:160640131..160640331hg19UCSC Ensembl
chr6:160560121..160560321hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5251751
SamplesNA18507
Known GenesSLC22A2
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
CommentsoriginalFile=Yoruban_med_del_12_500.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2433457
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