A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11083315



Internal ID2827999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99909937..99910787hg38UCSC Ensembl
Innerchr3:99909937..99910787hg38UCSC Ensembl
Outerchr3:99909937..99910787hg38UCSC Ensembl
chr3:99628781..99629631hg19UCSC Ensembl
Innerchr3:99628781..99629631hg19UCSC Ensembl
Outerchr3:99628781..99629631hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597161
Supporting Variants
SamplesHG02494
Known GenesCMSS1, FILIP1L, MIR548G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11083315
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