A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2609227



Internal ID8672785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:106272053..106273133hg38UCSC Ensembl
Outerchr12:106665831..106666911hg19UCSC Ensembl
Outerchr12:105189961..105191041hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5187745
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)esv2609227
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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