A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10403233



Internal ID348832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6553283..6567712hg38UCSC Ensembl
Innerchr2:6553304..6567692hg38UCSC Ensembl
Outerchr2:6553263..6567733hg38UCSC Ensembl
chr2:6693415..6707844hg19UCSC Ensembl
Innerchr2:6693436..6707824hg19UCSC Ensembl
Outerchr2:6693395..6707865hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3814430
hg1914430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589726
Supporting Variants
SamplesHG00096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10403233
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