A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5240484



Internal ID7985533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48959183..48960088hg38UCSC Ensembl
Outerchr20:47575720..47576625hg19UCSC Ensembl
Outerchr20:47009127..47010032hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2616333
Supporting Variants
SamplesNA18507
Known GenesARFGEF2
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)essv5240484
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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