A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2593250



Internal ID8656808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54428910..54429347hg38UCSC Ensembl
OuterchrX:54455343..54455780hg19UCSC Ensembl
OuterchrX:54472068..54472505hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38792
hg19792
hg18792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5329687
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)esv2593250
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer