A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5224084



Internal ID8315819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128649030..128652130hg38UCSC Ensembl
Outerchr9:131411309..131414409hg19UCSC Ensembl
Outerchr9:130451130..130454230hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383101
hg193101
hg183101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2436971
Supporting Variants
SamplesNA18507
Known GenesWDR34
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)essv5224084
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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