A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597979



Internal ID6638245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141519480..141526831hg38UCSC Ensembl
Innerchr3:141519480..141526831hg38UCSC Ensembl
Outerchr3:141519202..141527102hg38UCSC Ensembl
chr3:141238322..141245673hg19UCSC Ensembl
Innerchr3:141238322..141245673hg19UCSC Ensembl
Outerchr3:141238044..141245944hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387352
hg197352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11163847, essv11163846
SamplesHG00530, HG02088
Known GenesRASA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597979
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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