A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12355277



Internal ID5909290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53716514..53727880hg38UCSC Ensembl
chr6:53581312..53592678hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3811367
hg1911367
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609031
Supporting Variants
SamplesNA19321
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12355277
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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