A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5226210



Internal ID8317945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53593826..53594119hg38UCSC Ensembl
Outerchr8:54506386..54506679hg19UCSC Ensembl
Outerchr8:54668939..54669232hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38896
hg19896
hg18896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2652360
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)essv5226210
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