A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5182044



Internal ID8273779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:611108..613495hg38UCSC Ensembl
Outerchr16:661108..663495hg19UCSC Ensembl
Outerchr16:601109..603496hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382388
hg192388
hg182388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2446759
Supporting Variants
SamplesNA18507
Known GenesRAB40C
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)essv5182044
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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