A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5191409



Internal ID8283144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:91695221..91695901hg38UCSC Ensembl
Outerchr9:94457503..94458183hg19UCSC Ensembl
Outerchr9:93497324..93498004hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38481
hg19481
hg18481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2614187
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)essv5191409
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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