A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5205147



Internal ID8296882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41424795..41425530hg38UCSC Ensembl
Outerchr1:41890467..41891202hg19UCSC Ensembl
Outerchr1:41663054..41663789hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38470
hg19470
hg18470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2627113
Supporting Variants
SamplesNA18507
Known Genes
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)essv5205147
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer