A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2557952



Internal ID8621510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169828141..169829854hg38UCSC Ensembl
Outerchr6:170228237..170229950hg19UCSC Ensembl
Outerchr6:169970162..169971875hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381714
hg191714
hg181714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305584
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)esv2557952
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