A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2485852



Internal ID8549410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166415352..166416176hg38UCSC Ensembl
Outerchr6:166828840..166829664hg19UCSC Ensembl
Outerchr6:166748830..166749654hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38420
hg19420
hg18420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5353438
SamplesNA18507
Known GenesRPS6KA2
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)esv2485852
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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