A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837428



Internal ID15081741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123314855..123314856hg38UCSC Ensembl
Innerchr3:123314824..123314887hg38UCSC Ensembl
Outerchr3:123314823..123314888hg38UCSC Ensembl
chr3:123033702..123033703hg19UCSC Ensembl
Innerchr3:123033671..123033734hg19UCSC Ensembl
Outerchr3:123033670..123033735hg19UCSC Ensembl
chr3:124516392..124516393hg18UCSC Ensembl
Innerchr3:124516424..124516361hg18UCSC Ensembl
Outerchr3:124516360..124516425hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381162
hg191162
hg181162
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308428
Supporting Variants
SamplesNA19240
Known GenesADCY5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837428
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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