A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2572179



Internal ID8635737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46393805..46465976hg38UCSC Ensembl
Outerchr16:46427717..46499888hg19UCSC Ensembl
Outerchr16:44985218..45057389hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3872172
hg1972172
hg1872172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5301442
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)esv2572179
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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