A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5301279



Internal ID8046328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131153746..131155484hg38UCSC Ensembl
Outerchr5:130489439..130491177hg19UCSC Ensembl
Outerchr5:130517338..130519076hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381739
hg191739
hg181739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2590016
Supporting Variants
SamplesNA18507
Known Genes
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)essv5301279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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