A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251238



Internal ID464670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:182213685..182219110hg38UCSC Ensembl
Innerchr3:182213685..182219110hg38UCSC Ensembl
Outerchr3:182213513..182219178hg38UCSC Ensembl
chr3:181931473..181936898hg19UCSC Ensembl
Innerchr3:181931473..181936898hg19UCSC Ensembl
Outerchr3:181931301..181936966hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg385426
hg195426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598903
Supporting Variants
SamplesHG00149
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251238
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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