A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615093



Internal ID6655293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134265041..134524737hg38UCSC Ensembl
chr7:133949793..134209489hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38259697
hg19259697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12974938
SamplesHG03875
Known GenesAKR1B1, SLC35B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615093
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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