A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2468646



Internal ID8185520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66379512..66380934hg38UCSC Ensembl
Outerchr16:66413415..66414837hg19UCSC Ensembl
Outerchr16:64970916..64972338hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381423
hg191423
hg181423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5363226
SamplesNA18507
Known GenesCDH5
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)esv2468646
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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