A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13017994



Internal ID5618360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152814315..152849380hg38UCSC Ensembl
chr7:152511400..152546465hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3835066
hg1935066
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615529
Supporting Variants
SamplesNA19043
Known GenesACTR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13017994
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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