A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151494



Internal ID1153310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130351697..130356734hg38UCSC Ensembl
Innerchr3:130351697..130356734hg38UCSC Ensembl
Outerchr3:130351495..130356794hg38UCSC Ensembl
chr3:130070540..130075577hg19UCSC Ensembl
Innerchr3:130070540..130075577hg19UCSC Ensembl
Outerchr3:130070338..130075637hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385038
hg195038
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597762
Supporting Variants
SamplesNA19437
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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