A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2465974



Internal ID8182846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:54021147..54022157hg38UCSC Ensembl
Outerchr20:52637686..52638696hg19UCSC Ensembl
Outerchr20:52071093..52072103hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5201803
SamplesNA18507
Known GenesBCAS1
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)esv2465974
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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