A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11007089



Internal ID2338740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48781606..48786234hg38UCSC Ensembl
Innerchr3:48781756..48786084hg38UCSC Ensembl
Outerchr3:48781456..48786384hg38UCSC Ensembl
chr3:48819039..48823667hg19UCSC Ensembl
Innerchr3:48819189..48823517hg19UCSC Ensembl
Outerchr3:48818889..48823817hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384629
hg194629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596114
Supporting Variants
SamplesHG02078
Known GenesPRKAR2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11007089
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