A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597759



Internal ID6984897
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151485
SamplesNA18618
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597759
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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