A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2531026



Internal ID8247899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18596963..18599223hg38UCSC Ensembl
Outerchr8:18454473..18456733hg19UCSC Ensembl
Outerchr8:18498753..18501013hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382261
hg192261
hg182261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5358229
SamplesNA18507
Known GenesPSD3
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)esv2531026
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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