A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2642304



Internal ID8359176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:164839617..164840802hg38UCSC Ensembl
Outerchr2:165696127..165697312hg19UCSC Ensembl
Outerchr2:165404373..165405558hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381186
hg191186
hg181186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5234442
SamplesNA18507
Known GenesCOBLL1
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)esv2642304
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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