A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2574030



Internal ID8637588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:51013635..51015618hg38UCSC Ensembl
Outerchr16:51047546..51049529hg19UCSC Ensembl
Outerchr16:49605047..49607030hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381984
hg191984
hg181984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5299893
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)esv2574030
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