A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10931418



Internal ID1083217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13291021..13297878hg38UCSC Ensembl
Innerchr3:13291021..13297878hg38UCSC Ensembl
Outerchr3:13290804..13298169hg38UCSC Ensembl
chr3:13332521..13339378hg19UCSC Ensembl
Innerchr3:13332521..13339378hg19UCSC Ensembl
Outerchr3:13332304..13339669hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg386858
hg196858
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595348
Supporting Variants
SamplesHG00705
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10931418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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