A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10420088



Internal ID525850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16842579..16857050hg38UCSC Ensembl
chr2:17023846..17038317hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3814472
hg1914472
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589936
Supporting Variants
SamplesHG00189
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10420088
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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