A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5233899



Internal ID8325634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:145990438..145990869hg38UCSC Ensembl
OuterchrX:145071956..145072387hg19UCSC Ensembl
OuterchrX:144879648..144880079hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38831
hg19831
hg18831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2582276
Supporting Variants
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)essv5233899
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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