A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2578626



Internal ID8295499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46701421..46702359hg38UCSC Ensembl
Outerchr2:46928560..46929498hg19UCSC Ensembl
Outerchr2:46782064..46783002hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5317119
SamplesNA18507
Known GenesSOCS5
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)esv2578626
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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