A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283952



Internal ID6715096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194515349..194551319hg38UCSC Ensembl
Innerchr3:194515499..194551169hg38UCSC Ensembl
Outerchr3:194515199..194551469hg38UCSC Ensembl
chr3:194236078..194272048hg19UCSC Ensembl
Innerchr3:194236228..194271898hg19UCSC Ensembl
Outerchr3:194235928..194272198hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3835971
hg1935971
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599203
Supporting Variants
SamplesNA20847
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283952
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer