A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2513210



Internal ID8576768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95658018..95659083hg38UCSC Ensembl
Outerchr5:94993722..94994787hg19UCSC Ensembl
Outerchr5:95019478..95020543hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5331691
SamplesNA18507
Known GenesSPATA9
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)esv2513210
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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