A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5203321



Internal ID8295056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:129143366..129146501hg38UCSC Ensembl
Outerchr11:129013261..129016396hg19UCSC Ensembl
Outerchr11:128518471..128521606hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg383136
hg193136
hg183136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2601979
Supporting Variants
SamplesNA18507
Known GenesARHGAP32
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)essv5203321
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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