A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568955



Internal ID1591604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86054463..86058772hg38UCSC Ensembl
chr2:86281586..86285895hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591538
Supporting Variants
SamplesHG01479
Known GenesPOLR1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568955
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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