A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15667870



Internal ID5669686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37406555..37610947hg38UCSC Ensembl
chr17:35766646..35970992hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38204393
hg19204347
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640494
Supporting Variants
SamplesNA20362
Known GenesACACA, DUSP14, SYNRG, TADA2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15667870
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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