A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2654032



Internal ID8370904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23898646..23900184hg38UCSC Ensembl
Outerchr16:23909967..23911505hg19UCSC Ensembl
Outerchr16:23817468..23819006hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381539
hg191539
hg181539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5190642
SamplesNA18507
Known GenesPRKCB
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)esv2654032
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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