A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596537



Internal ID6983852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72491919..72493112hg38UCSC Ensembl
Innerchr3:72491919..72493112hg38UCSC Ensembl
Outerchr3:72491680..72493253hg38UCSC Ensembl
chr3:72541070..72542263hg19UCSC Ensembl
Innerchr3:72541070..72542263hg19UCSC Ensembl
Outerchr3:72540831..72542404hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11038679, essv11038682, essv11038680, essv11038683, essv11038678, essv11038681, essv11038684
SamplesNA20869, NA21105, HG03945, NA21118, NA21098, NA21124, HG03681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596537
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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