A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15666707



Internal ID5668523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37198366..37397715hg38UCSC Ensembl
chr17:35555307..35754669hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38199350
hg19199363
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640487
Supporting Variants
SamplesNA20359
Known GenesACACA, C17orf78
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15666707
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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