A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11061860



Internal ID2450089
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596836
Supporting Variants
SamplesHG02154
Known GenesCADM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11061860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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