A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2591284



Internal ID8308156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120883862..120885396hg38UCSC Ensembl
Outerchr12:121321665..121323199hg19UCSC Ensembl
Outerchr12:119806048..119807582hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5210803
SamplesNA18507
Known GenesSPPL3
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)esv2591284
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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