A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2568742



Internal ID8632300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107903344..107904855hg38UCSC Ensembl
Outerchr12:108297121..108298632hg19UCSC Ensembl
Outerchr12:106821251..106822762hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381512
hg191512
hg181512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5254728
SamplesNA18507
Known GenesLOC728739
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)esv2568742
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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