A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14182097



Internal ID4183913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62950243..63024049hg38UCSC Ensembl
Innerchr11:62950393..63023899hg38UCSC Ensembl
Outerchr11:62950093..63024199hg38UCSC Ensembl
chr11:62717715..62791521hg19UCSC Ensembl
Innerchr11:62717865..62791371hg19UCSC Ensembl
Outerchr11:62717565..62791671hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3873807
hg1973807
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626616
Supporting Variants
SamplesHG00142
Known GenesSLC22A6, SLC22A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14182097
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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