A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2578250



Internal ID8641808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59590627..59592181hg38UCSC Ensembl
Outerchr18:57257859..57259413hg19UCSC Ensembl
Outerchr18:55408839..55410393hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381555
hg191555
hg181555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5215969
SamplesNA18507
Known GenesCCBE1
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)esv2578250
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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