A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2553989



Internal ID8617547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:14274250..14274747hg38UCSC Ensembl
Outerchr2:14414374..14414871hg19UCSC Ensembl
Outerchr2:14331825..14332322hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5209304
SamplesNA18507
Known GenesLINC00276
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)esv2553989
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