A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2442112



Internal ID8505670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58550131..58550953hg38UCSC Ensembl
Outerchr18:56217363..56218185hg19UCSC Ensembl
Outerchr18:54368343..54369165hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38396
hg19396
hg18396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5324924
SamplesNA18507
Known GenesALPK2
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)esv2442112
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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