A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5358128



Internal ID8449863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:38767489..38768583hg38UCSC Ensembl
Outerchr9:38767486..38768580hg19UCSC Ensembl
Outerchr9:38757486..38758580hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38145
hg19145
hg18145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2475089
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)essv5358128
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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