A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10924523



Internal ID1493252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:11770823..11779634hg38UCSC Ensembl
Innerchr3:11770823..11779634hg38UCSC Ensembl
Outerchr3:11770623..11779866hg38UCSC Ensembl
chr3:11812297..11821108hg19UCSC Ensembl
Innerchr3:11812297..11821108hg19UCSC Ensembl
Outerchr3:11812097..11821340hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg388812
hg198812
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595308
Supporting Variants
SamplesHG01372
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10924523
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