A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5327973



Internal ID8419708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:3523180..3524864hg38UCSC Ensembl
Outerchr9:3523180..3524864hg19UCSC Ensembl
Outerchr9:3513180..3514864hg18UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2477708
Supporting Variants
SamplesNA18507
Known GenesRFX3
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)essv5327973
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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