A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2480424



Internal ID8543982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:68321279..68322742hg38UCSC Ensembl
Outerchr12:68715059..68716522hg19UCSC Ensembl
Outerchr12:67001326..67002789hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381464
hg191464
hg181464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5196345
SamplesNA18507
Known GenesMDM1
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)esv2480424
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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