A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2578455



Internal ID8642014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67524191..67525477hg38UCSC Ensembl
Outerchr17:65520307..65521593hg19UCSC Ensembl
Outerchr17:62950769..62952055hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381287
hg191287
hg181287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5280076
SamplesNA18507
Known GenesPITPNC1
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)esv2578455
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