A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2608298



Internal ID8671856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:87613366..87614367hg38UCSC Ensembl
Outerchr10:89373123..89374124hg19UCSC Ensembl
Outerchr10:89363103..89364104hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38336
hg19336
hg18336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5335660
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)esv2608298
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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