A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10406809



Internal ID2868522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9790174..9806406hg38UCSC Ensembl
chr2:9930303..9946535hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3816233
hg1916233
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589785
Supporting Variants
SamplesHG02545
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10406809
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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