A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2519443



Internal ID8583001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:85285827..85287472hg38UCSC Ensembl
Outerchr9:87900742..87902387hg19UCSC Ensembl
Outerchr9:87090562..87092207hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381646
hg191646
hg181646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5270892
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)esv2519443
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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