A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600985



Internal ID6641243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72952867..73192514hg38UCSC Ensembl
chr4:73818584..74058231hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38239648
hg19239648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11497820
SamplesHG02699
Known GenesANKRD17, COX18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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