A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2630879



Internal ID8694437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63027721..63028361hg38UCSC Ensembl
Outerchr20:61659073..61659713hg19UCSC Ensembl
Outerchr20:61129518..61130158hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38558
hg19558
hg18558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5317168
SamplesNA18507
Known GenesLOC63930
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)esv2630879
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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