A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619324



Internal ID8336196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77394776..77395675hg38UCSC Ensembl
Outerchr5:76690601..76691500hg19UCSC Ensembl
Outerchr5:76726357..76727256hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5326785
SamplesNA18507
Known GenesPDE8B
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)esv2619324
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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