A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607859



Internal ID6648098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:613060..710620hg38UCSC Ensembl
chr6:613060..710620hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3897561
hg1997561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12169599
SamplesHG02073
Known GenesEXOC2, HUS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607859
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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