A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679290



Internal ID5439694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43330771..43354166hg38UCSC Ensembl
chr17:41408139..41431534hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3823396
hg1923396
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640624
Supporting Variants
SamplesNA18960
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679290
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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