A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12974938



Internal ID2976754
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615093
Supporting Variants
SamplesHG03875
Known GenesAKR1B1, SLC35B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12974938
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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