A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5319509



Internal ID8064558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189644658..189653451hg38UCSC Ensembl
Outerchr3:189362447..189371240hg19UCSC Ensembl
Outerchr3:190845141..190853934hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388794
hg198794
hg188794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2591138
Supporting Variants
SamplesNA18507
Known GenesTP63
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)essv5319509
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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