A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591540



Internal ID6631824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86055590..86283809hg38UCSC Ensembl
Innerchr2:86055740..86283659hg38UCSC Ensembl
Outerchr2:86055440..86283959hg38UCSC Ensembl
chr2:86282713..86510932hg19UCSC Ensembl
Innerchr2:86282863..86510782hg19UCSC Ensembl
Outerchr2:86282563..86511082hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38228220
hg19228220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568959, essv10568958
SamplesHG00246, HG01479
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591540
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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