A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598631



Internal ID6985767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170673486..170818914hg38UCSC Ensembl
Innerchr3:170673636..170818764hg38UCSC Ensembl
Outerchr3:170673336..170819064hg38UCSC Ensembl
chr3:170391275..170536703hg19UCSC Ensembl
Innerchr3:170391425..170536553hg19UCSC Ensembl
Outerchr3:170391125..170536853hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38145429
hg19145429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11224314, essv11224315
SamplesNA19917, HG03061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598631
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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