A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590626



Internal ID6977955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47257214..47289931hg38UCSC Ensembl
Innerchr2:47257714..47289431hg38UCSC Ensembl
Outerchr2:47256214..47290931hg38UCSC Ensembl
chr2:47484353..47517070hg19UCSC Ensembl
Innerchr2:47484853..47516570hg19UCSC Ensembl
Outerchr2:47483353..47518070hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3832718
hg1932718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10491051
SamplesHG01840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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