A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2491328



Internal ID8554886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103911217..103912400hg38UCSC Ensembl
OuterchrX:103166137..103166995hg19UCSC Ensembl
OuterchrX:103052793..103053651hg18UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305328
SamplesNA18507
Known GenesMIR1256
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)esv2491328
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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