A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2547171



Internal ID8264043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:43064574..43066586hg38UCSC Ensembl
Outerchr8:42919717..42921729hg19UCSC Ensembl
Outerchr8:43038874..43040886hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382013
hg192013
hg182013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5223889
SamplesNA18507
Known GenesFNTA
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)esv2547171
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