A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5389736



Internal ID8134785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23462192..23463767hg38UCSC Ensembl
Outerchr16:23473513..23475088hg19UCSC Ensembl
Outerchr16:23381014..23382589hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381576
hg191576
hg181576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2536944
Supporting Variants
SamplesNA18507
Known GenesGGA2
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)essv5389736
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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