A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2590495



Internal ID8307368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24683710..24684212hg38UCSC Ensembl
Outerchr6:24683938..24684440hg19UCSC Ensembl
Outerchr6:24791917..24792419hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38713
hg19713
hg18713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5391470
SamplesNA18507
Known GenesACOT13
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)esv2590495
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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