A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2483846



Internal ID8547404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:35710514..35711847hg38UCSC Ensembl
Outerchr8:35568032..35569365hg19UCSC Ensembl
Outerchr8:35687574..35688907hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381334
hg191334
hg181334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5330510
SamplesNA18507
Known GenesUNC5D
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)esv2483846
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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