A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631147



Internal ID7017959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128739876..128782984hg38UCSC Ensembl
Innerchr12:128740026..128782834hg38UCSC Ensembl
Outerchr12:128739726..128783134hg38UCSC Ensembl
chr12:129224421..129267529hg19UCSC Ensembl
Innerchr12:129224571..129267379hg19UCSC Ensembl
Outerchr12:129224271..129267679hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3843109
hg1943109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312e214
Supporting Variantsessv14629851, essv14629853, essv14629856, essv14629854, essv14629855, essv14629852
SamplesNA20515, NA20535, HG02322, HG01894, HG00623, HG01357
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631147
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer