A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2535857



Internal ID8599416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6479763..6481183hg38UCSC Ensembl
Outerchr9:6479763..6481183hg19UCSC Ensembl
Outerchr9:6469763..6471183hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381421
hg191421
hg181421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5311806
SamplesNA18507
Known GenesUHRF2
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)esv2535857
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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