A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12406263



Internal ID5418271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:68418198..68461790hg38UCSC Ensembl
chr6:69128090..69171682hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3843593
hg1943593
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609378
Supporting Variants
SamplesNA18950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12406263
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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