A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2598033



Internal ID8661591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69775661..69777204hg38UCSC Ensembl
Outerchr15:70068000..70069543hg19UCSC Ensembl
Outerchr15:67855054..67856597hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5241683
SamplesNA18507
Known Genes
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)esv2598033
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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