A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5330870



Internal ID8075919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:146469115..146545174hg38UCSC Ensembl
Outerchr3:146186902..146262961hg19UCSC Ensembl
Outerchr3:147669592..147745651hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3876060
hg1976060
hg1876060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2496437
Supporting Variants
SamplesNA18507
Known GenesPLSCR1, PLSCR2
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)essv5330870
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