A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2459256



Internal ID8522814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:47144124..47149349hg38UCSC Ensembl
Outerchr10:48590013..48595238hg19UCSC Ensembl
Outerchr10:48210019..48215244hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg385226
hg195226
hg185226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5207126
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)esv2459256
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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