A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2543842



Internal ID8607400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43260058..43261533hg38UCSC Ensembl
Outerchr12:43653861..43655336hg19UCSC Ensembl
Outerchr12:41940128..41941603hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381476
hg191476
hg181476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5375925
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)esv2543842
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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