A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647943



Internal ID7034682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46168132..46171083hg38UCSC Ensembl
Innerchr22:46168134..46171081hg38UCSC Ensembl
Outerchr22:46168130..46171085hg38UCSC Ensembl
chr22:46564031..46566982hg19UCSC Ensembl
Innerchr22:46564033..46566980hg19UCSC Ensembl
Outerchr22:46564029..46566984hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382952
hg192952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16444939, essv16444940, essv16444955, essv16444949, essv16444944, essv16444947, essv16444948, essv16444945, essv16444953, essv16444938, essv16444941, essv16444950, essv16444943, essv16444952, essv16444946, essv16444936, essv16444956, essv16444942, essv16444935, essv16444954, essv16444937, essv16444951
SamplesHG01303, NA12286, HG01531, HG01522, NA12348, NA06984, HG02224, HG01284, HG00365, NA20787, HG01077, HG01675, HG01630, HG01504, HG01286, NA12778, NA21143, NA21113, NA20851, NA20887, HG01395, HG00255
Known GenesPPARA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647943
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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