A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596191



Internal ID6983508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55147619..55154680hg38UCSC Ensembl
Innerchr3:55147669..55154630hg38UCSC Ensembl
Outerchr3:55147569..55154730hg38UCSC Ensembl
chr3:55181646..55188707hg19UCSC Ensembl
Innerchr3:55181696..55188657hg19UCSC Ensembl
Outerchr3:55181596..55188757hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg387062
hg197062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11015578, essv11015577
SamplesHG03585, NA21087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596191
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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