A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11310311



Internal ID1312127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197561588..197726246hg38UCSC Ensembl
Innerchr3:197561738..197726096hg38UCSC Ensembl
Outerchr3:197561438..197726396hg38UCSC Ensembl
chr3:197288459..197453117hg19UCSC Ensembl
Innerchr3:197288609..197452967hg19UCSC Ensembl
Outerchr3:197288309..197453267hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38164659
hg19164659
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599313
Supporting Variants
SamplesHG02407
Known GenesBDH1, KIAA0226, LOC220729, MIR922
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11310311
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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