A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16445118



Internal ID6446934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46324981..46344914hg38UCSC Ensembl
Innerchr22:46324981..46344914hg38UCSC Ensembl
Outerchr22:46324481..46345414hg38UCSC Ensembl
chr22:46720878..46740811hg19UCSC Ensembl
Innerchr22:46720878..46740811hg19UCSC Ensembl
Outerchr22:46720378..46741311hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3819934
hg1919934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647951
Supporting Variants
SamplesHG03163
Known GenesGTSE1, TRMU
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16445118
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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