A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5367948



Internal ID8459683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166211937..166213366hg38UCSC Ensembl
Outerchr6:166625425..166626854hg19UCSC Ensembl
Outerchr6:166545415..166546844hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381430
hg191430
hg181430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2644590
Supporting Variants
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)essv5367948
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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