A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15658684



Internal ID975294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31591795..31606909hg38UCSC Ensembl
chr17:29918814..29933928hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3815115
hg1915115
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640367
Supporting Variants
SamplesHG00607
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15658684
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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