A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595348



Internal ID6982666
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10931417, essv10931418, essv10931420, essv10931416, essv10931419
SamplesHG00654, HG00683, HG00705, HG02057, HG02076
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595348
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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