A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10684288



Internal ID5296553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136513390..136560887hg38UCSC Ensembl
chr2:137270960..137318457hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3847498
hg1947498
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592602
Supporting Variants
SamplesNA18749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10684288
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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