A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614393



Internal ID6654599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104330246..104360277hg38UCSC Ensembl
chr7:103970694..104000725hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3830032
hg1930032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12913197, essv12913196
SamplesHG02067, NA19783
Known GenesLHFPL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614393
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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