A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5356924



Internal ID8448659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131272853..131274362hg38UCSC Ensembl
Outerchr5:130608546..130610055hg19UCSC Ensembl
Outerchr5:130636445..130637954hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381510
hg191510
hg181510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2458941
Supporting Variants
SamplesNA18507
Known GenesCDC42SE2
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)essv5356924
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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