A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5265502



Internal ID8010551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67479031..67480750hg38UCSC Ensembl
Outerchr16:67512934..67514653hg19UCSC Ensembl
Outerchr16:66070435..66072154hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2622215
Supporting Variants
SamplesNA18507
Known GenesATP6V0D1
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)essv5265502
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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