A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595887



Internal ID6636161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37319289..37878005hg38UCSC Ensembl
Innerchr3:37319439..37877855hg38UCSC Ensembl
Outerchr3:37319139..37878155hg38UCSC Ensembl
chr3:37360780..37919496hg19UCSC Ensembl
Innerchr3:37360930..37919346hg19UCSC Ensembl
Outerchr3:37360630..37919646hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38558717
hg19558717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10982110
SamplesHG02595
Known GenesC3orf35, CTDSPL, GOLGA4, ITGA9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595887
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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