A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615685



Internal ID7002574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157262531..157275268hg38UCSC Ensembl
chr7:157055225..157067962hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3812738
hg1912738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1347e214
Supporting Variantsessv13040084, essv13040083
SamplesHG03132, HG01841
Known GenesUBE3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615685
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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