A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598173



Internal ID6638438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151312411..151314856hg38UCSC Ensembl
Innerchr3:151312437..151314831hg38UCSC Ensembl
Outerchr3:151312386..151314882hg38UCSC Ensembl
chr3:151030199..151032644hg19UCSC Ensembl
Innerchr3:151030225..151032619hg19UCSC Ensembl
Outerchr3:151030174..151032670hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382446
hg192446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11183949
SamplesHG02558
Known GenesGPR87, MED12L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598173
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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