A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10931029



Internal ID1397045
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595344
Supporting Variants
SamplesHG01260
Known GenesIQSEC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10931029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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