A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161688



Internal ID8253423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91024494..91025940hg38UCSC Ensembl
Outerchr8:92036722..92038168hg19UCSC Ensembl
Outerchr8:92105898..92107344hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381447
hg191447
hg181447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2443764
Supporting Variants
SamplesNA18507
Known GenesTMEM55A
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)essv5161688
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