A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5262502



Internal ID8354237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132742437..132743088hg38UCSC Ensembl
Outerchr12:133319023..133319674hg19UCSC Ensembl
Outerchr12:131829096..131829747hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2621079
Supporting Variants
SamplesNA18507
Known GenesANKLE2
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)essv5262502
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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