A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10532434



Internal ID534250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66909671..66921647hg38UCSC Ensembl
Innerchr2:66909712..66921607hg38UCSC Ensembl
Outerchr2:66909631..66921688hg38UCSC Ensembl
chr2:67136803..67148779hg19UCSC Ensembl
Innerchr2:67136844..67148739hg19UCSC Ensembl
Outerchr2:67136763..67148820hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3811977
hg1911977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591134
Supporting Variants
SamplesHG03740
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10532434
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