A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257996



Internal ID3702522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186182160..186184452hg38UCSC Ensembl
Innerchr3:186182160..186184452hg38UCSC Ensembl
Outerchr3:186181965..186184638hg38UCSC Ensembl
chr3:185899949..185902241hg19UCSC Ensembl
Innerchr3:185899949..185902241hg19UCSC Ensembl
Outerchr3:185899754..185902427hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg382293
hg192293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598987
Supporting Variants
SamplesHG03303
Known GenesDGKG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257996
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