A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596836



Internal ID6984150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85344572..85383084hg38UCSC Ensembl
Innerchr3:85344572..85383084hg38UCSC Ensembl
Outerchr3:85344072..85383584hg38UCSC Ensembl
chr3:85393722..85432234hg19UCSC Ensembl
Innerchr3:85393722..85432234hg19UCSC Ensembl
Outerchr3:85393222..85432734hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3838513
hg1938513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11061861, essv11061859, essv11061860
SamplesHG02154, HG02095, HG02230
Known GenesCADM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596836
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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