A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591547



Internal ID6631831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86173881..86282236hg38UCSC Ensembl
chr2:86401004..86509359hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38108356
hg19108356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv713e214
Supporting Variantsessv10568971, essv10568972
SamplesHG00319, HG01479
Known GenesIMMT, MIR4779, MRPL35, REEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591547
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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