A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2634239



Internal ID8697797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241565448..241568206hg38UCSC Ensembl
Outerchr2:242504863..242507621hg19UCSC Ensembl
Outerchr2:242153536..242156294hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382759
hg192759
hg182759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5180676
SamplesNA18507
Known GenesBOK
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)esv2634239
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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