A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12860924



Internal ID3934395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79980692..80004568hg38UCSC Ensembl
chr7:79610008..79633884hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3823877
hg1923877
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613845
Supporting Variants
SamplesHG03585
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12860924
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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