A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2629720



Internal ID8693278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12292516..12294244hg38UCSC Ensembl
Outerchr17:12195833..12197561hg19UCSC Ensembl
Outerchr17:12136558..12138286hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381729
hg191729
hg181729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5259392
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)esv2629720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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