A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5366632



Internal ID8458367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31265262..31351585hg38UCSC Ensembl
Outerchr6:31233039..31319362hg19UCSC Ensembl
Outerchr6:31341018..31427341hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3886324
hg1986324
hg1886324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2503823
Supporting Variants
SamplesNA18507
Known GenesHLA-C
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)essv5366632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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