A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5172823



Internal ID8264558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139398002..139399576hg38UCSC Ensembl
Outerchr5:138733691..138735265hg19UCSC Ensembl
Outerchr5:138761590..138763164hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2568140
Supporting Variants
SamplesNA18507
Known GenesSPATA24
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)essv5172823
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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