A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5360487



Internal ID8105536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31712870..31714585hg38UCSC Ensembl
Outerchr8:31570386..31572101hg19UCSC Ensembl
Outerchr8:31689928..31691643hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381716
hg191716
hg181716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2638529
Supporting Variants
SamplesNA18507
Known GenesNRG1
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)essv5360487
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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