A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5167423



Internal ID8259158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:68505817..68506871hg38UCSC Ensembl
Outerchr2:68732949..68734003hg19UCSC Ensembl
Outerchr2:68586453..68587507hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38166
hg19166
hg18166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2525478
Supporting Variants
SamplesNA18507
Known GenesAPLF
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)essv5167423
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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