A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2530670



Internal ID8594228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165677868..165678665hg38UCSC Ensembl
Outerchr6:166091356..166092153hg19UCSC Ensembl
Outerchr6:166011346..166012143hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38467
hg19467
hg18467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5172880
SamplesNA18507
Known Genes
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)esv2530670
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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