A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585054



Internal ID6972578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3935264..3941914hg38UCSC Ensembl
chr1:3995323..4001974hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg386651
hg196652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9844464, essv9844462, essv9844463
SamplesHG02481, NA20872, HG01191
Known GenesLOC728716
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585054
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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