A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11082671



Internal ID5591247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99416684..99422059hg38UCSC Ensembl
Innerchr3:99416697..99422047hg38UCSC Ensembl
Outerchr3:99416672..99422072hg38UCSC Ensembl
chr3:99135528..99140903hg19UCSC Ensembl
Innerchr3:99135541..99140891hg19UCSC Ensembl
Outerchr3:99135516..99140916hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg385376
hg195376
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597146
Supporting Variants
SamplesNA19028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11082671
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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