A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12864815



Internal ID4598327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81370337..81412456hg38UCSC Ensembl
chr7:80999653..81041772hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3842120
hg1942120
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613886
Supporting Variants
SamplesHG04118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12864815
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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