A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10410389



Internal ID6183756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11346762..11357861hg38UCSC Ensembl
chr2:11486888..11497987hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589816
Supporting Variants
SamplesNA19719
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10410389
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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