A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5338417



Internal ID8430152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43583012..43586454hg38UCSC Ensembl
Outerchr12:43976815..43980257hg19UCSC Ensembl
Outerchr12:42263082..42266524hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383443
hg193443
hg183443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2560193
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)essv5338417
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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