A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12685426



Internal ID6260928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13752655..13815638hg38UCSC Ensembl
chr7:13792280..13855263hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3862984
hg1962984
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612303
Supporting Variants
SamplesNA19782
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12685426
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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