A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595383



Internal ID6982701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15306948..15308299hg38UCSC Ensembl
Innerchr3:15306976..15308272hg38UCSC Ensembl
Outerchr3:15306921..15308327hg38UCSC Ensembl
chr3:15348455..15349806hg19UCSC Ensembl
Innerchr3:15348483..15349779hg19UCSC Ensembl
Outerchr3:15348428..15349834hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10933256
SamplesHG03343
Known GenesSH3BP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595383
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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