A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2539910



Internal ID8603468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:62150230..62153298hg38UCSC Ensembl
Outerchr16:62184134..62187202hg19UCSC Ensembl
Outerchr16:60741635..60744703hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383069
hg193069
hg183069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5390516
SamplesNA18507
Known Genes
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)esv2539910
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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