A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2496437



Internal ID8213309
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 StatusM
Merged Variants
Supporting Variantsessv5330870
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)esv2496437
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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