A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5226544



Internal ID8318279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33250987..33252553hg38UCSC Ensembl
Outerchr9:33250985..33252551hg19UCSC Ensembl
Outerchr9:33240985..33242551hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381567
hg191567
hg181567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2463163
Supporting Variants
SamplesNA18507
Known GenesBAG1
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)essv5226544
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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