A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2503104



Internal ID8566662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169768994..169769991hg38UCSC Ensembl
Outerchr3:169486782..169487779hg19UCSC Ensembl
Outerchr3:170969476..170970473hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5294158
SamplesNA18507
Known GenesACTRT3
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)esv2503104
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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