A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2520472



Internal ID8584030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79527692..79528144hg38UCSC Ensembl
Outerchr3:79576842..79577294hg19UCSC Ensembl
Outerchr3:79659532..79659984hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38710
hg19710
hg18710
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5302900
SamplesNA18507
Known GenesROBO1
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)esv2520472
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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