A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599424



Internal ID6986471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3319754..3320751hg38UCSC Ensembl
Innerchr4:3319754..3320751hg38UCSC Ensembl
Outerchr4:3319396..3321121hg38UCSC Ensembl
chr4:3321481..3322478hg19UCSC Ensembl
Innerchr4:3321481..3322478hg19UCSC Ensembl
Outerchr4:3321123..3322848hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317309
SamplesHG00608
Known GenesRGS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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