A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12459711



Internal ID5867659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89453348..89606022hg38UCSC Ensembl
chr6:90163067..90315741hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38152675
hg19152675
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609904
Supporting Variants
SamplesNA19248
Known GenesANKRD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12459711
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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