A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595322



Internal ID6982640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12361990..12438081hg38UCSC Ensembl
Innerchr3:12362140..12437931hg38UCSC Ensembl
Outerchr3:12361840..12438231hg38UCSC Ensembl
chr3:12403489..12479580hg19UCSC Ensembl
Innerchr3:12403639..12479430hg19UCSC Ensembl
Outerchr3:12403339..12479730hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3876092
hg1976092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10928613
SamplesNA12046
Known GenesPPARG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595322
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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