A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2641960



Internal ID8705518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54425816..54431030hg38UCSC Ensembl
Outerchr18:51952186..51957400hg19UCSC Ensembl
Outerchr18:50206184..50211398hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385215
hg195215
hg185215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5322244
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)esv2641960
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