A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2542129



Internal ID8605687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9988658..9989503hg38UCSC Ensembl
OuterchrX:9956698..9957543hg19UCSC Ensembl
OuterchrX:9916698..9917543hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5352357
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)esv2542129
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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