A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12199812



Internal ID1656312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14865960..14881751hg38UCSC Ensembl
chr6:14866191..14881982hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3815792
hg1915792
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608156
Supporting Variants
SamplesHG01522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12199812
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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