A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626616



Internal ID6666766
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv204e214
Supporting Variantsessv14182097, essv14182098
SamplesHG00142, NA19375
Known GenesSLC22A6, SLC22A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626616
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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