A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5247248



Internal ID8338983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80103554..80104951hg38UCSC Ensembl
Outerchr13:80677689..80679086hg19UCSC Ensembl
Outerchr13:79575690..79577087hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381398
hg191398
hg181398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2499735
Supporting Variants
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)essv5247248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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