A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596024



Internal ID6983342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43817504..43822844hg38UCSC Ensembl
Innerchr3:43817504..43822844hg38UCSC Ensembl
Outerchr3:43817284..43823058hg38UCSC Ensembl
chr3:43858996..43864336hg19UCSC Ensembl
Innerchr3:43858996..43864336hg19UCSC Ensembl
Outerchr3:43858776..43864550hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg385341
hg195341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993175, essv10993177, essv10993176
SamplesHG01351, HG01455, HG01494
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596024
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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