A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179122



Internal ID5604873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3331568..3335672hg38UCSC Ensembl
chr6:3331802..3335906hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384105
hg194105
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607929
Supporting Variants
SamplesNA19036
Known GenesSLC22A23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179122
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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