A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11738171



Internal ID1739987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185448235..185466446hg38UCSC Ensembl
chr4:186369389..186387600hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3818212
hg1918212
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603497
Supporting Variants
SamplesHG02477
Known GenesC4orf47, CCDC110
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11738171
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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