A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5206656



Internal ID7951705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161548423..161631182hg38UCSC Ensembl
Outerchr1:161518213..161600972hg19UCSC Ensembl
Outerchr1:159784837..159867596hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3882760
hg1982760
hg1882760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2507888
Supporting Variants
SamplesNA18507
Known GenesFCGR2C, FCGR3A, FCGR3B, HSPA7
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)essv5206656
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