A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5228987



Internal ID8320722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:72029435..72030535hg38UCSC Ensembl
Outerchr9:74644351..74645451hg19UCSC Ensembl
Outerchr9:73834171..73835271hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2531810
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)essv5228987
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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