A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11026114



Internal ID1273421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61430342..61431132hg38UCSC Ensembl
Innerchr3:61430342..61431132hg38UCSC Ensembl
Outerchr3:61429978..61431526hg38UCSC Ensembl
chr3:61416016..61416806hg19UCSC Ensembl
Innerchr3:61416016..61416806hg19UCSC Ensembl
Outerchr3:61415652..61417200hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596342
Supporting Variants
SamplesHG01121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11026114
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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