A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372571



Internal ID15219547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53753312..53753326hg38UCSC Ensembl
Innerchr20:53753312..53753324hg38UCSC Ensembl
Outerchr20:53753298..53753338hg38UCSC Ensembl
chr20:52369851..52369865hg19UCSC Ensembl
Innerchr20:52369851..52369863hg19UCSC Ensembl
Outerchr20:52369837..52369877hg19UCSC Ensembl
chr20:51803258..51803272hg18UCSC Ensembl
Innerchr20:51803270..51803258hg18UCSC Ensembl
Outerchr20:51803244..51803284hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8975989, essv8975990, essv8975987, essv8975988, essv8975991
SamplesNA18507, NA18871, NA18853, NA19099, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372571
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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