A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2488989



Internal ID8205861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46753480..46810454hg38UCSC Ensembl
Outerchr3:46794970..46851944hg19UCSC Ensembl
Outerchr3:46769974..46826948hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3856975
hg1956975
hg1856975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5291051
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)esv2488989
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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