A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2430348



Internal ID8147220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27438037..27438787hg38UCSC Ensembl
Outerchr8:27295554..27296304hg19UCSC Ensembl
Outerchr8:27351471..27352221hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38503
hg19503
hg18503
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5277277
SamplesNA18507
Known GenesPTK2B
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)esv2430348
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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