A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2465411



Internal ID8528969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177678384..177679429hg38UCSC Ensembl
Outerchr2:178543112..178544157hg19UCSC Ensembl
Outerchr2:178251358..178252403hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5192859
SamplesNA18507
Known GenesPDE11A
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)esv2465411
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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