A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12502092



Internal ID5678819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110344206..110348941hg38UCSC Ensembl
chr6:110665409..110670144hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384736
hg194736
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610357
Supporting Variants
SamplesNA19080
Known GenesMETTL24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12502092
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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