A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2489063



Internal ID8552621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75160219..75161350hg38UCSC Ensembl
Outerchr2:75387345..75388476hg19UCSC Ensembl
Outerchr2:75240853..75241984hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5222112
SamplesNA18507
Known GenesTACR1
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)esv2489063
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