A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693814



Internal ID15038681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122282515..122284813hg38UCSC Ensembl
Innerchr3:122283515..122283813hg38UCSC Ensembl
Outerchr3:122281515..122285813hg38UCSC Ensembl
chr3:122001362..122003660hg19UCSC Ensembl
Innerchr3:122002362..122002660hg19UCSC Ensembl
Outerchr3:122000362..122004660hg19UCSC Ensembl
chr3:123484052..123486350hg18UCSC Ensembl
Innerchr3:123485052..123485350hg18UCSC Ensembl
Outerchr3:123483052..123487350hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443020
Supporting Variants
SamplesNA19239
Known GenesCASR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693814
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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