A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2595466



Internal ID8312338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74932135..74933631hg38UCSC Ensembl
Outerchr15:75224476..75225972hg19UCSC Ensembl
Outerchr15:73011529..73013025hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg381497
hg191497
hg181497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5205539
SamplesNA18507
Known GenesCOX5A
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)esv2595466
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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