A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14178530



Internal ID3451020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62042056..62045818hg38UCSC Ensembl
Innerchr11:62042106..62045768hg38UCSC Ensembl
Outerchr11:62042006..62045868hg38UCSC Ensembl
chr11:61809528..61813290hg19UCSC Ensembl
Innerchr11:61809578..61813240hg19UCSC Ensembl
Outerchr11:61809478..61813340hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg383763
hg193763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626593
Supporting Variants
SamplesHG03078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14178530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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