A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595326



Internal ID6635600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12587736..12767678hg38UCSC Ensembl
chr3:12629235..12809177hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38179943
hg19179943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv869e214
Supporting Variantsessv10928619, essv10928618
SamplesHG01392, HG01205
Known GenesRAF1, TMEM40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595326
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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