A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11051222



Internal ID633801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79695301..79753524hg38UCSC Ensembl
chr3:79744451..79802674hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3858224
hg1958224
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596705
Supporting Variants
SamplesHG00277
Known GenesROBO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11051222
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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