A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5230418



Internal ID8322153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1564995..1565893hg38UCSC Ensembl
Outerchr20:1545641..1546539hg19UCSC Ensembl
Outerchr20:1493641..1494539hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38347
hg19347
hg18347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2424715
Supporting Variants
SamplesNA18507
Known GenesSIRPB1
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)essv5230418
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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