A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2595492



Internal ID8659051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45232659..45236828hg38UCSC Ensembl
Outerchr10:45728107..45732276hg19UCSC Ensembl
Outerchr10:45048113..45052282hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg384170
hg194170
hg184170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5328179
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)esv2595492
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