A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2536519



Internal ID8600077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133290969..133293078hg38UCSC Ensembl
Outerchr10:135104473..135106582hg19UCSC Ensembl
Outerchr10:134954463..134956572hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg382110
hg192110
hg182110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5371357
SamplesNA18507
Known GenesTUBGCP2
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)esv2536519
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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