A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287068



Internal ID5310285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194839852..194847833hg38UCSC Ensembl
Innerchr3:194839852..194847833hg38UCSC Ensembl
Outerchr3:194839596..194848085hg38UCSC Ensembl
chr3:194560581..194568562hg19UCSC Ensembl
Innerchr3:194560581..194568562hg19UCSC Ensembl
Outerchr3:194560325..194568814hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387982
hg197982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599219
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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