A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5252355



Internal ID7997404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72054766..72064976hg38UCSC Ensembl
Outerchr16:72088665..72098875hg19UCSC Ensembl
Outerchr16:70646166..70656376hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3810211
hg1910211
hg1810211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2478287
Supporting Variants
SamplesNA18507
Known GenesHP, HPR
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)essv5252355
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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