A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5367057



Internal ID8458792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5111925..5114851hg38UCSC Ensembl
Outerchr12:5221091..5224017hg19UCSC Ensembl
Outerchr12:5091352..5094278hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382927
hg192927
hg182927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2439202
Supporting Variants
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)essv5367057
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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