A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5204399



Internal ID8296134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161095332..161096336hg38UCSC Ensembl
Outerchr2:161951843..161952847hg19UCSC Ensembl
Outerchr2:161660089..161661093hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2472922
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5204399
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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