A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5177584



Internal ID7922633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18759559..18760475hg38UCSC Ensembl
Outerchr8:18617069..18617985hg19UCSC Ensembl
Outerchr8:18661349..18662265hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2509063
Supporting Variants
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)essv5177584
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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