A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2428807



Internal ID8492365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:51620938..51622353hg38UCSC Ensembl
OuterchrX:51363790..51365205hg19UCSC Ensembl
OuterchrX:51380530..51381945hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5271307
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)esv2428807
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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