A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151485



Internal ID5210531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130240718..130256476hg38UCSC Ensembl
Innerchr3:130240718..130256476hg38UCSC Ensembl
Outerchr3:130240218..130256976hg38UCSC Ensembl
chr3:129959561..129975319hg19UCSC Ensembl
Innerchr3:129959561..129975319hg19UCSC Ensembl
Outerchr3:129959061..129975819hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3815759
hg1915759
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597759
Supporting Variants
SamplesNA18618
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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