A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11308554



Internal ID1310371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196759100..197444213hg38UCSC Ensembl
Innerchr3:196759250..197444063hg38UCSC Ensembl
Outerchr3:196758950..197444363hg38UCSC Ensembl
chr3:196485971..197171084hg19UCSC Ensembl
Innerchr3:196486121..197170934hg19UCSC Ensembl
Outerchr3:196485821..197171234hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38685114
hg19685114
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599293
Supporting Variants
SamplesHG03061
Known GenesDLG1, DLG1-AS1, MFI2, MFI2-AS1, MIR4797, NCBP2, NCBP2-AS2, PAK2, PIGZ, SENP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11308554
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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