A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11180107



Internal ID1985416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149245546..149251923hg38UCSC Ensembl
Innerchr3:149245546..149251923hg38UCSC Ensembl
Outerchr3:149245180..149252317hg38UCSC Ensembl
chr3:148963333..148969710hg19UCSC Ensembl
Innerchr3:148963333..148969710hg19UCSC Ensembl
Outerchr3:148962967..148970104hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg386378
hg196378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598142
Supporting Variants
SamplesHG01845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11180107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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