A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596156



Internal ID6636429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51547460..51550493hg38UCSC Ensembl
Innerchr3:51547460..51550493hg38UCSC Ensembl
Outerchr3:51546960..51550993hg38UCSC Ensembl
chr3:51581476..51584509hg19UCSC Ensembl
Innerchr3:51581476..51584509hg19UCSC Ensembl
Outerchr3:51580976..51585009hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383034
hg193034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11013271
SamplesNA18525
Known GenesRAD54L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596156
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