A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10468203



Internal ID6781890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38521680..38537174hg38UCSC Ensembl
chr2:38748822..38764316hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3815495
hg1915495
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590416
Supporting Variants
SamplesNA20881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10468203
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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