A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5208474



Internal ID7953523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156734962..156735869hg38UCSC Ensembl
Outerchr1:156704754..156705661hg19UCSC Ensembl
Outerchr1:154971378..154972285hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38447
hg19447
hg18447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2495964
Supporting Variants
SamplesNA18507
Known GenesRRNAD1
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)essv5208474
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer