A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5290923



Internal ID8382658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148848286..148849891hg38UCSC Ensembl
Outerchr3:148566073..148567678hg19UCSC Ensembl
Outerchr3:150048763..150050368hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381606
hg191606
hg181606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2507087
Supporting Variants
SamplesNA18507
Known GenesCPB1
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)essv5290923
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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