A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596218



Internal ID6983535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56760556..56766818hg38UCSC Ensembl
Innerchr3:56760556..56766818hg38UCSC Ensembl
Outerchr3:56760334..56767049hg38UCSC Ensembl
chr3:56794584..56800846hg19UCSC Ensembl
Innerchr3:56794584..56800846hg19UCSC Ensembl
Outerchr3:56794362..56801077hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386263
hg196263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11020024, essv11020025, essv11020027, essv11020026
SamplesHG00189, HG00318, HG00282, HG00180
Known GenesARHGEF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596218
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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