A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679020



Internal ID5597472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41504761..41536129hg38UCSC Ensembl
chr17:39661013..39692381hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3831369
hg1931369
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640589
Supporting Variants
SamplesNA19031
Known GenesKRT13, KRT15, KRT19, MIR6510
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679020
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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