A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694101



Internal ID14694651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52799496..52800994hg38UCSC Ensembl
Innerchr3:52799994..52800496hg38UCSC Ensembl
Outerchr3:52798496..52801994hg38UCSC Ensembl
chr3:52833512..52835010hg19UCSC Ensembl
Innerchr3:52834010..52834512hg19UCSC Ensembl
Outerchr3:52832512..52836010hg19UCSC Ensembl
chr3:52808552..52810050hg18UCSC Ensembl
Innerchr3:52809552..52809050hg18UCSC Ensembl
Outerchr3:52807552..52811050hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3452194
Supporting Variants
SamplesNA19239
Known GenesITIH3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694101
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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