A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2464768



Internal ID8181640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:12613700..12614890hg38UCSC Ensembl
OuterchrY:14725632..14726822hg19UCSC Ensembl
OuterchrY:13235654..13236216hg18UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5383648
SamplesNA18507
Known Genes
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)esv2464768
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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