A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2653233



Internal ID8716791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137686088..137688702hg38UCSC Ensembl
Outerchr5:137021777..137024391hg19UCSC Ensembl
Outerchr5:137049676..137052290hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382615
hg192615
hg182615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5238221
SamplesNA18507
Known GenesKLHL3
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)esv2653233
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer