A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10538265



Internal ID1989510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71248963..71265456hg38UCSC Ensembl
Innerchr2:71248963..71265456hg38UCSC Ensembl
Outerchr2:71248463..71265956hg38UCSC Ensembl
chr2:71476093..71492586hg19UCSC Ensembl
Innerchr2:71476093..71492586hg19UCSC Ensembl
Outerchr2:71475593..71493086hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3816494
hg1916494
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591225
Supporting Variants
SamplesHG01846
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10538265
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