A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2425366



Internal ID8488924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89228256..89229793hg38UCSC Ensembl
Outerchr9:91843171..91844708hg19UCSC Ensembl
Outerchr9:91032991..91034528hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381538
hg191538
hg181538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5281489
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)esv2425366
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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