A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595344



Internal ID6982662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12958981..12963530hg38UCSC Ensembl
Innerchr3:12958981..12963530hg38UCSC Ensembl
Outerchr3:12958481..12964030hg38UCSC Ensembl
chr3:13000481..13005030hg19UCSC Ensembl
Innerchr3:13000481..13005030hg19UCSC Ensembl
Outerchr3:12999981..13005530hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg384550
hg194550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10931029
SamplesHG01260
Known GenesIQSEC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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