A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2559138



Internal ID8622696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89769328..89770346hg38UCSC Ensembl
Outerchr15:90312559..90313577hg19UCSC Ensembl
Outerchr15:88113563..88114581hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5351124
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)esv2559138
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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