A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5276072



Internal ID8367807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58170084..58171679hg38UCSC Ensembl
Outerchr18:55837316..55838911hg19UCSC Ensembl
Outerchr18:53988314..53989909hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg381596
hg191596
hg181596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2572802
Supporting Variants
SamplesNA18507
Known GenesNEDD4L
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)essv5276072
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