A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2645214



Internal ID8708772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:8815523..8819563hg38UCSC Ensembl
OuterchrX:8783564..8787604hg19UCSC Ensembl
OuterchrX:8743564..8747604hg18UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg384041
hg194041
hg184041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5165261
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)esv2645214
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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