A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15667867



Internal ID6415173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37399339..37415811hg38UCSC Ensembl
chr17:35759429..35775895hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3816473
hg1916467
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640493
Supporting Variants
SamplesNA20359
Known GenesACACA, TADA2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15667867
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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