A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10928613



Internal ID4830466
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595322
Supporting Variants
SamplesNA12046
Known GenesPPARG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10928613
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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