A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2506531



Internal ID8570089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88974214..88975145hg38UCSC Ensembl
Outerchr9:91589129..91590060hg19UCSC Ensembl
Outerchr9:90778949..90779880hg18UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38372
hg19372
hg18372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5223556
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)esv2506531
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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