A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179114



Internal ID5669878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3331357..3336086hg38UCSC Ensembl
Innerchr6:3331359..3336085hg38UCSC Ensembl
Outerchr6:3331356..3336088hg38UCSC Ensembl
chr6:3331591..3336320hg19UCSC Ensembl
Innerchr6:3331593..3336319hg19UCSC Ensembl
Outerchr6:3331590..3336322hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384730
hg194730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607927
Supporting Variants
SamplesNA19076
Known GenesSLC22A23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179114
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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