A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179117



Internal ID5669872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3331568..3335672hg38UCSC Ensembl
chr6:3331802..3335906hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384105
hg194105
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607928
Supporting Variants
SamplesNA19076
Known GenesSLC22A23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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