A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11123028



Internal ID3482796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122363278..122363899hg38UCSC Ensembl
Innerchr3:122363278..122363899hg38UCSC Ensembl
Outerchr3:122362922..122364185hg38UCSC Ensembl
chr3:122082125..122082746hg19UCSC Ensembl
Innerchr3:122082125..122082746hg19UCSC Ensembl
Outerchr3:122081769..122083032hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597607
Supporting Variants
SamplesHG03096
Known GenesCCDC58
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11123028
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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