A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2484274



Internal ID8547833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5159325..5160636hg38UCSC Ensembl
Outerchr10:5201523..5202599hg19UCSC Ensembl
Outerchr10:5191523..5192599hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5234210
SamplesNA18507
Known GenesAKR1CL1
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)esv2484274
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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