A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595454



Internal ID6982772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19284011..19401107hg38UCSC Ensembl
Innerchr3:19284011..19401107hg38UCSC Ensembl
Outerchr3:19283511..19401607hg38UCSC Ensembl
chr3:19325503..19442599hg19UCSC Ensembl
Innerchr3:19325503..19442599hg19UCSC Ensembl
Outerchr3:19325003..19443099hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38117097
hg19117097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10942959
SamplesHG00319
Known GenesKCNH8, MIR4791
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595454
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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