A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5292253



Internal ID8037302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7007922..7009550hg38UCSC Ensembl
Outerchr16:7057923..7059551hg19UCSC Ensembl
Outerchr16:6997924..6999552hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381629
hg191629
hg181629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2636026
Supporting Variants
SamplesNA18507
Known GenesRBFOX1
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)essv5292253
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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