A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5207881



Internal ID8299616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:25776082..25777449hg38UCSC Ensembl
Outerchr9:25776080..25777447hg19UCSC Ensembl
Outerchr9:25766080..25767447hg18UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg381368
hg191368
hg181368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2609077
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)essv5207881
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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