A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2472134



Internal ID8189006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122724674..122751796hg38UCSC Ensembl
Outerchr9:125486953..125514075hg19UCSC Ensembl
Outerchr9:124526774..124553896hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3827123
hg1927123
hg1827123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5225129
SamplesNA18507
Known GenesOR1L4, OR1L6
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)esv2472134
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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