A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595328



Internal ID6635602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12589035..12766981hg38UCSC Ensembl
Innerchr3:12589185..12766831hg38UCSC Ensembl
Outerchr3:12588885..12767131hg38UCSC Ensembl
chr3:12630534..12808480hg19UCSC Ensembl
Innerchr3:12630684..12808330hg19UCSC Ensembl
Outerchr3:12630384..12808630hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38177947
hg19177947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv869e214
Supporting Variantsessv10928625, essv10928624, essv10928623
SamplesHG01069, HG01392, HG01205
Known GenesRAF1, TMEM40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595328
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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