A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2493897



Internal ID8210769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8294502..8294665hg38UCSC Ensembl
Outerchr4:8296229..8296392hg19UCSC Ensembl
Outerchr4:8347129..8347292hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381041
hg191041
hg181041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5392351
SamplesNA18507
Known GenesHTRA3
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)esv2493897
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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