A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5249406



Internal ID8341141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229899141..229900538hg38UCSC Ensembl
Outerchr1:230034888..230036285hg19UCSC Ensembl
Outerchr1:228101511..228102908hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381398
hg191398
hg181398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2576101
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)essv5249406
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