A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2426130



Internal ID8489688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216224612..216228690hg38UCSC Ensembl
Outerchr2:217089335..217093413hg19UCSC Ensembl
Outerchr2:216797580..216801658hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384079
hg194079
hg184079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5172408
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)esv2426130
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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