A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5367223



Internal ID8458958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160611425..160634803hg38UCSC Ensembl
Outerchr6:161032457..161055835hg19UCSC Ensembl
Outerchr6:160952447..160975825hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3823379
hg1923379
hg1823379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2530911
Supporting Variants
SamplesNA18507
Known GenesLPA
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)essv5367223
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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