A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2477708



Internal ID8541266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:3523180..3524864hg38UCSC Ensembl
Outerchr9:3523180..3524864hg19UCSC Ensembl
Outerchr9:3513180..3514864hg18UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5327973
SamplesNA18507
Known GenesRFX3
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)esv2477708
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