A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2479244



Internal ID8542802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6362504..6363145hg38UCSC Ensembl
Outerchr12:6471670..6472311hg19UCSC Ensembl
Outerchr12:6341931..6342572hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38673
hg19673
hg18673
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5380098
SamplesNA18507
Known GenesSCNN1A
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)esv2479244
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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