A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5294356



Internal ID8386091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:92184672..92186368hg38UCSC Ensembl
Outerchr5:91480489..91482185hg19UCSC Ensembl
Outerchr5:91516245..91517941hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2460826
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)essv5294356
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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