A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2479663



Internal ID8543221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:93842615..93844331hg38UCSC Ensembl
Outerchr15:94385844..94387560hg19UCSC Ensembl
Outerchr15:92186848..92188564hg18UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg381717
hg191717
hg181717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5219395
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)esv2479663
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