A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671142



Internal ID14712761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77355126..77355437hg38UCSC Ensembl
Innerchr3:77355170..77355393hg38UCSC Ensembl
Outerchr3:77355082..77355481hg38UCSC Ensembl
chr3:77404277..77404588hg19UCSC Ensembl
Innerchr3:77404321..77404544hg19UCSC Ensembl
Outerchr3:77404233..77404632hg19UCSC Ensembl
chr3:77486967..77487278hg18UCSC Ensembl
Innerchr3:77487011..77487234hg18UCSC Ensembl
Outerchr3:77486923..77487322hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38312
hg19312
hg18312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329708
Supporting Variants
SamplesNA19239
Known GenesROBO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671142
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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