A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2614260



Internal ID8677818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65812329..65813960hg38UCSC Ensembl
Outerchr12:66206109..66207740hg19UCSC Ensembl
Outerchr12:64492376..64494007hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381632
hg191632
hg181632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5259295
SamplesNA18507
Known GenesRPSAP52
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)esv2614260
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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