A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427927



Internal ID8491485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:157620708..157625785hg38UCSC Ensembl
Outerchr3:157338497..157343574hg19UCSC Ensembl
Outerchr3:158821191..158826268hg18UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg385078
hg195078
hg185078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5314382
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)esv2427927
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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