A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640589



Internal ID7027364
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679017, essv15679019, essv15679020, essv15679018
SamplesHG02549, HG02946, NA19031, NA18564
Known GenesKRT13, KRT15, KRT19, MIR6510
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640589
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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