A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2536402



Internal ID8599960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119525084..119526011hg38UCSC Ensembl
Outerchr2:120282660..120283587hg19UCSC Ensembl
Outerchr2:119999130..120000057hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38379
hg19379
hg18379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5264233
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)esv2536402
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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