A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679022



Internal ID5125379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41605673..41624921hg38UCSC Ensembl
chr17:39761925..39781173hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3819249
hg1919249
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640591
Supporting Variants
SamplesNA18564
Known GenesKRT16, KRT17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679022
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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