A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640590



Internal ID6680677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41546357..41596426hg38UCSC Ensembl
chr17:39702609..39752678hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3850070
hg1950070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679021
SamplesNA18564
Known GenesKRT14, KRT9, LINC00974
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640590
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer