A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5282403



Internal ID8027452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:97998181..97999833hg38UCSC Ensembl
Outerchr9:100760463..100762115hg19UCSC Ensembl
Outerchr9:99800284..99801936hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381653
hg191653
hg181653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2540773
Supporting Variants
SamplesNA18507
Known GenesANP32B
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)essv5282403
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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