A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595308



Internal ID6982626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:11770823..11779634hg38UCSC Ensembl
Innerchr3:11770823..11779634hg38UCSC Ensembl
Outerchr3:11770623..11779866hg38UCSC Ensembl
chr3:11812297..11821108hg19UCSC Ensembl
Innerchr3:11812297..11821108hg19UCSC Ensembl
Outerchr3:11812097..11821340hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg388812
hg198812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10924522, essv10924523
SamplesHG01372, HG01113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595308
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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